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rare diseases

As famílias de crianças com doenças raras da Região Autónoma da Madeira, Portugal / Families of children with rare diseases of autonomous Region of Madeira, Portugal

As famílias de crianças com doenças raras da Região Autónoma da Madeira, Portugal / Families of children with rare diseases of autonomous Region of Madeira, Portugal

... EURORDIS Rare Diseases: Understanding this Public Health Priority de 2005 e na fundamentação para a implementação do Plano Nacional Francês para as doenças raras ...

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Artificial intelligence (AI) in rare diseases: Is the future brighter?

Artificial intelligence (AI) in rare diseases: Is the future brighter?

... trials. Rare diseases (RDs), which are severely underrepresented in basic and clinical research, can particularly benefit from AI ...common diseases and RDs, has also been ...

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Treatment networks and associations of patients with rare diseases

Treatment networks and associations of patients with rare diseases

... as rare diseases, and they are sometimes included in social movements in ...with Rare Diseases was enacted in 2014, patients still struggle to ensure access to and treatment by the Unified ...

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Difficulties in the diagnosis and treatment of rare diseases according to the perceptions of patients, relatives and health care professionals

Difficulties in the diagnosis and treatment of rare diseases according to the perceptions of patients, relatives and health care professionals

... with rare diseases, and this inadequacy led to unpleasant experiences, such as the seemingly endless referrals among health services to reach a final diagnosis and develop a treatment ...

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Computer-assisted initial diagnosis of rare diseases

Computer-assisted initial diagnosis of rare diseases

... Symptom-based Differential Diagnosis (DDX) generators that assist medical doctors in automatically generating initial diagnosis have been originally developed in the mid nineteen eighties (Barnett et al., 1987). A recent ...

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An initialization technique for geometric semantic geneticprogramming based on demes evolution and despeciation : machine learning for rare diseases: a case study

An initialization technique for geometric semantic geneticprogramming based on demes evolution and despeciation : machine learning for rare diseases: a case study

... Along with novel initialization technique, we expose in this document the method- ological framework and results of its application in context of institutional collabora- tion with Casa dos Marcos (from now on it will be ...

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Saúde bucal de indivíduos brasileiros com mucopolissacaridose: um estudo transversal pareado

Saúde bucal de indivíduos brasileiros com mucopolissacaridose: um estudo transversal pareado

... During submission you will be asked to provide a cover letter. Use this to explain why your manuscript should be published in the journal, to elaborate on any issues relating to our editorial policies in the 'About ...

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Alfa, rev. linguíst. (São José Rio Preto)  vol.60 número1

Alfa, rev. linguíst. (São José Rio Preto) vol.60 número1

... The medical term ibromyalgia, which refers to a set of musculoskeletal symptoms characterized by persistent pain and extreme fatigue, including psychological ones, has no entry in DRAE. However, words like acedia (sloth, ...

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Cad. Saúde Pública  vol.31 número3

Cad. Saúde Pública vol.31 número3

... This study analyzes the available evidence on the adequacy of economic evaluation for deci- sion-making on the incorporation or exclusion of technologies for rare diseases. The authors conducted a ...

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Int. braz j urol.  vol.38 número2

Int. braz j urol. vol.38 número2

... particularly rare diseases, and the training of potential junior investigators; recently, the notion that case reports represent a lower qual- ity of evidence in the design hierarchy of studies, and the ...

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Vasculite associada à ANCA e leucemia linfocítica crônica: uma rara associação.

Vasculite associada à ANCA e leucemia linfocítica crônica: uma rara associação.

... two rare diseases, vasculitis related to antineutrophil cytoplasmic antibodies and chronic lymphocytic ...are diseases that may be multisystemic and thus cause diagnostic ...

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Statistical guidance for experimental design and data analysis of mutation detection in rare monogenic mendelian diseases by exome sequencing.

Statistical guidance for experimental design and data analysis of mutation detection in rare monogenic mendelian diseases by exome sequencing.

... for rare diseases ...example, rare recessive diseases often run in highly inbred families in which patients often carry a common homozygous ...of rare Mendelian diseases, it ...

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en 1807 5762 icse 21 s1 1205

en 1807 5762 icse 21 s1 1205

... This theoretical essay reflects on the qualification and provision of physicians in the context of the National Policy on Comprehensive Care of People with Rare Diseases in the SUS. To carry out this ...

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Texto contexto  enferm.  vol.25 número4

Texto contexto enferm. vol.25 número4

... Rare diseases represent a great challenge be- cause they require strategies that can improve access to prevention and diagnostic services and to patient ...a rare disease is a condition that in some ...

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Rare codons cluster.

Rare codons cluster.

... where rare codons are avoided, even when codon bias is ...of rare codons (%Min windows) are also over-represented, up to 28 standard deviations from the mean at the point of greatest deviation from the ...

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Rare human diseases: 9p deletion syndrome

Rare human diseases: 9p deletion syndrome

... Abstract. Rare human diseases: 9p deletion ...with rare chromosome disorders such as 9p deletion ...of diseases have not been identified in probands’ ...

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NASOALVEOLAR CYST: A RARE ENTITY

NASOALVEOLAR CYST: A RARE ENTITY

... ABSTRACT: Nasoalveolar cyst is a rare, non odontogenic cyst that constitute about 0.7% of all the jaw cysts. It is a soft tissue cyst present extraosseous as a slowly enlarging mass in the region of nasal ala. ...

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Cardiovascular diseases

Cardiovascular diseases

... For example, reported ischemic heart disease mortality rose in all the countries except Argentina, Canada, Chile, and the United States.. Moreover, when the percent- [r] ...

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Diarrheal diseases

Diarrheal diseases

... Infections with ETEC cause copious, watery diarrhea and are an important cause of warm season diar- rhea in young children in developing countries.. EIEC produces feve[r] ...

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DIARRHEAL DISEASES

DIARRHEAL DISEASES

... Treatment and prevention of diarrheal diseases should be an integral part of overall health care services and should incorporate multidisciplinary, preventive strategies [r] ...

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