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TBX genes belong to a family of homeotic genes (t-boxes) for which it has been proved that gene mutations have serious consequences on the development. In particular, there is significant evidence to support the involvement of the TBX1 gene in DiGeorge / Velocardiofacial syndrome (DGS/VCFS) and it has been proved that the TBX3 and TBX5 genes are implicated, respectively, in UMS (Ulnar Mammary Syndhrome) and in Holt-Oram syndrome (HOS). The book collects information available in the literature up to October 2001 on human TBX genes. The review of the data allowed to come to interesting considerations and offers ideas for orienting further research.
Genetics. --- Pathology. --- Congenital, Hereditary, and Neonatal Diseases and Abnormalities --- Genetic Processes --- DNA-Binding Proteins --- Transcription Factors --- Genetic Phenomena --- Proteins --- Diseases --- Phenomena and Processes --- Amino Acids, Peptides, and Proteins --- Chemicals and Drugs --- Mutagenesis --- T-Box Domain Proteins --- Congenital Abnormalities --- Abnormalities, Congenital --- Defects, Congenital --- Birth Defects --- Congenital Defects --- Deformities --- Fetal Anomalies --- Fetal Malformations --- Abnormality, Congenital --- Anomaly, Fetal --- Birth Defect --- Congenital Abnormality --- Congenital Defect --- Defect, Birth --- Defect, Congenital --- Deformity --- Fetal Anomaly --- Fetal Malformation --- Malformation, Fetal --- Fetal Diseases --- Infant, Newborn, Diseases --- Teratogenesis --- Proteins, T-Box Domain --- T Box Domain Proteins --- Mutageneses --- Mutation Accumulation --- Mutagens --- Mutation --- Gene Products, Protein --- Gene Proteins --- Protein --- Protein Gene Products --- Proteins, Gene --- Molecular Mechanisms of Pharmacological Action --- Genetic Concepts --- Genetic Phenomenon --- Genetic Process --- Concept, Genetic --- Concepts, Genetic --- Genetic Concept --- Phenomena, Genetic --- Phenomenon, Genetic --- Process, Genetic --- Processes, Genetic --- Molecular Biology --- Transcription Factor --- Factor, Transcription --- Factors, Transcription --- Gene Expression Regulation --- Transcription, Genetic --- DNA Binding Protein --- DNA Single-Stranded Binding Protein --- SS DNA BP --- Single-Stranded DNA-Binding Protein --- DNA Helix Destabilizing Proteins --- DNA-Binding Protein --- Single-Stranded DNA Binding Proteins --- Binding Protein, DNA --- DNA Binding Proteins --- DNA Single Stranded Binding Protein --- DNA-Binding Protein, Single-Stranded --- Protein, DNA-Binding --- Single Stranded DNA Binding Protein --- Single Stranded DNA Binding Proteins --- Disorders, Congenital --- Congenital Disorders --- Neonatal Diseases and Abnormalities --- Congenital Disorder --- Disorder, Congenital --- Disease (Pathology) --- Medical sciences --- Medicine --- Medicine, Preventive --- Biology --- Embryology --- Mendel's law --- Adaptation (Biology) --- Breeding --- Chromosomes --- Heredity --- Mutation (Biology) --- Variation (Biology) --- Drug Therapy --- Pharmacologic Actions --- Therapy, Drug --- Chemotherapy --- Pharmacotherapy --- Chemotherapies --- Drug Therapies --- Pharmacotherapies --- Therapies, Drug --- Disease --- Pharmaceutical Preparations --- drug therapy --- therapeutic use --- Medicina --- Genetica --- DNA --- Open Access
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Come risulta evidente dalla pratica clinica e riabilitativa, il bambino disprattico non sa prevedere ed organizzare un progetto d'azione; non sa controllare cio' che sta facendo nel corso dell'azione; quindi non sa fare, ma potremmo anche ammettere che non sa ancora fare, non ha cioè ancora imparato a realizzare funzioni. Funzioni e azioni possono pero' essere rispettivamente apprese e svolte con l'aiuto di esercizi mirati e svolti in modo continuativo. E' comunque indispensabile ricordare le difficoltà del bambino disprattico, se sottoposto a compiti nuovi, inusuali. L'Autrice propone un modello di valutazione e di intervento che tenga conto di ipotesi eziologiche e neuropsicologiche, sottolineando la necessità di procedere con un'analisi su diversi livelli: percettivo, motorio e rappresentativo. Particolare importanza viene data alla diagnosi e all'intervento precoce per poter provvedere alla definizione e messa in atto di adeguati progetti terapeutici. L'opera si conclude con l'analisi e la descrizione di casi clinici riferiti ad alcune peculiari forme di disprassia: la disprassia verbale e la disgrafia. Infine, vengono illustrati esercizi mirati rispetto ai vari ambiti dello sviluppo, ideati e sperimentati dai logopedisti che hanno contribuito, insieme all'Autrice, alla stesura del presente volume.
Apraxia. --- Psychomotor disorders in children. --- Agraphia. --- Dyslexia. --- Dysgraphia --- Brain --- Language disorders --- Writing --- Child psychiatry --- Movement disorders in children --- Developmental dyslexia --- Word-blindness, Partial --- Reading disability --- Alexia --- Clumsy child syndrome --- Congenital maladroitness --- DCD (Developmental coordination disorder) --- Developmental coordination disorder --- Developmental dyspraxia --- Dyspraxia --- Agnosia --- Psychomotor disorders --- Diseases --- Rehabilitation. --- Speech pathology. --- Rehabilitation Medicine. --- Speech Pathology. --- Defective speech --- Disorders of speech --- Speech, Disorders of --- Speech defects --- Speech pathology --- Communicative disorders --- Rehabilitation medicine. --- Medicine, Rehabilitation --- Rehabilitation medicine --- Rehabilitation --- Medicine, Physical
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La consapevolezza che l’atopia sia l’espressione di una più facile suscettibilità della cute e delle mucose (oculari, respiratorie, digestive) agli agenti esterni in senso lato, porta alla logica conseguenza che i professionisti della salute che se ne debbano occupare siano vari e necessariamente coordinati. La nozione di atopia allarga il concetto tradizionale di allergia, perché in molti pazienti atopici non sono dimostrabili le classiche alterazioni immunologiche dell’allergia. Questi due fatti hanno quindi portato alla creazione di Dipartimenti dell’Atopia nelle strutture sanitarie di vari paesi. Lo scopo di questa pubblicazione è quello di "tradurre" e schematizzare gli argomenti svolti in maniera accademica nella prima edizione della Scuola dell’atopia e che si sono condensati nel testo omonimo. Questo libro, invece, si propone di essere uno strumento sintetico e di rapida consultazione, destinato a chi si confronta con questi pazienti nel quotidiano: medico, pediatra di base, infermiere o farmacista. Il libro comprende un atlante fotografico cronologico ed annotato delle principali manifestazioni dell’atopia cui segue la sezione degli algoritmi commentati su ciascuno dei principali capitoli. La terza parte, infine, offre un elenco critico dei "prodotti" per l’atopia disponibili in Italia ed include, oltre ai farmaci topici, una selezione dei dermocosmetici utili nella gestione dei questi pazienti.
Atopic dermatitis. --- Eczéma constitutionnel --- Dermatitis, Atopic. --- Medicine. --- Dermatitis, Atopic --- Skin Diseases, Eczematous --- Skin Diseases, Genetic --- Hypersensitivity, Immediate --- Dermatitis --- Skin Diseases --- Hypersensitivity --- Genetic Diseases, Inborn --- Skin and Connective Tissue Diseases --- Congenital, Hereditary, and Neonatal Diseases and Abnormalities --- Immune System Diseases --- Diseases --- Dermatology --- Medicine --- Health & Biological Sciences --- Allergy. --- Dermatology. --- Immunology. --- Clinical sciences --- Medical profession --- Immunobiology --- Allergic diseases --- Allergies --- Immediate allergy --- Immediate hypersensitivity --- Medicine & Public Health. --- Allergology. --- Human biology --- Life sciences --- Medical sciences --- Pathology --- Physicians --- Serology --- Skin --- Immunologic diseases --- Immunoglobulin E
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