Building a National Policy for Rare Disease in Brazil.

Rare diseases (RD) are individually rare, although encompass a significant proportion of the population, affecting not only the individuals but also their families. In Brazil RD is defined by the Ministry of Health as a disorder that affects up to 65 individuals in 100,000, or 1.3 individuals in every 2,000.

A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease.

Background:  Neuronal ceroid lipofuscinoses (NCL) are a group of autosomal recessive, inherited, lysosomal, and neurodegenerative diseases that causes progressive dementia, seizures, movement disorders, language delay/regression, progressive visual failure, and early death. Neuronal ceroid lipofuscinosis type 2 (CLN2), caused by biallelic pathogenic variants of the gene, is the only NCL with an approved targeted therapy. The laboratory diagnosis of CLN2 is established through highly specific tests, leading to diagnostic delays and eventually hampering the provision of specific treatment for patients with CLN2.

The Minimum Data Set for Rare Diseases: Systematic Review.

Background: The minimum data set (MDS) is a collection of data elements to be grouped using a standard approach to allow the use of data for clinical and research purposes. Health data are typically voluminous, complex, and sometimes too ambiguous to generate indicators that can provide knowledge and information on health. This complexity extends further to the rare disease (RD) domain.

Availability of Genetic Tests in Public Health Services in Brazil: Data from the Brazilian Rare Diseases Network.

Introduction: The Brazilian Policy for Comprehensive Care for People with Rare Diseases (BPCCPRD) was published in 2014, accrediting several reference centers and incorporating many genetic tests for the diagnosis of rare diseases (RDs). The Brazilian Network of Rare Diseases (RARAS) comprises more than 40 institutions that offer diagnosis and treatment for RDs in Brazil. This network includes Reference Services for Rare Diseases (RDRS), Reference Services for Newborn Screening (NSRS), and University Hospitals distributed in all Brazilian regions.

Association between genetic factors and molar-incisor hypomineralisation or hypomineralised second primary molar: A systematic review.

Objective: To determine the association between genetic factors and molar-incisor hypomineralisation (MIH) and/or hypomineralised second primary molars by means of a systematic review.

Design: A search was performed in Medline-PubMed, Scopus, Embase and Web of Science databases; manual search and search in gray literature were also performed. Selection of articles was performed independently by two researchers.

Periodontal Ehlers-Danlos syndrome in early childhood: A case report of loss of deciduous teeth.

The aim of the present study is to report a case of periodontal Ehlers-Danlos syndrome (pEDS) in early childhood. A 3-year-old child, complaining of severe tooth mobility, gingival bleeding, and early loss of deciduous teeth sought the dental clinics. The patient was diagnosed with pEDS, and no other systematic health impairments were diagnosed.

Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN).

The Brazilian Policy of Comprehensive Care for People with Rare Diseases (BPCCPRD) was established by the Ministry of Health to reduce morbidity and mortality and improve the quality of life of people with rare diseases (RD). Several laboratory tests, most using molecular genetic technologies, have been incorporated by the Brazilian Public Health System, and 18 specialised centres have so far been established at university hospitals (UH) in the capitals of the Southern, Southeastern and Northeastern regions. However, whether the available human and technological resources in these services are appropriate and sufficient to achieve the goals of care established by the BPCCPRD is unknown.