838 research outputs found
BÞrneliv pÄ dÞgninstitution.: SocialpÊdagogik pÄ tvÊrs af bÞrns livssammenhÊnge
DĂžgninstitutioner for bĂžrn og unge er gennem tiden blevet kaldt meget forskelligt som f.eks. âopdragelsesanstalterâ, âbĂžrnehjemâ eller âbe- handlingshjem.â (se f.eks. Bryderup 2005). Tilsvarende er dĂžgninstitutionsbĂžrn blevet kategoriseret som âadfĂŠrdsvanskeligeâ, âom- sorgssvigtedeâ eller âbehandlingskrĂŠvendeâ. Kategoriseringer, der lĂŠgger op til at forstaÌ bĂžrnene som specielle bĂžrn med sĂŠrlige behov i problematiske familier. De mange betegnel- ser viser hen til forskelle i forstaÌelser af, hvad problemerne handler om i de professionelle praksisser, der sĂžger at haÌndtere dem. Disse forskellige problemforstaÌelser udgĂžr et af de mest centrale stridspunkter i professionelles diskussioner om, hvilken hjĂŠlp der bĂžr ydes
The thesis of judicialization of health care by the elites : medication for mucopolysaccharidosis
O artigo avalia a hipótese de se a judicialização
de medicamentos para o tratamento das
mucopolissacaridoses no Brasil seria uma ação
das elites econÎmicas. Debatem-se estudos prévios
que defendem a tese da judicialização pelas elites
em outros medicamentos. Discute-se, a metodologia
desses estudos e as inferĂȘncias dela derivadas
e o respaldo empĂrico dessa tese no caso de um dos
medicamentos judicializados de mais alto custo
para o SUS. Foram analisados os 196 processos
julgados entre fevereiro de 2006 e dezembro de
2010 que determinam a provisĂŁo gratuita dos medicamentos
para mucopolissacaridoses pelo Ministério
da SaĂșde. HĂĄ evidĂȘncias de que os custos
advocatĂcios sejam financiados por entidades interessadas
nos resultados da judicialização, como
as empresas distribuidoras ou indĂșstrias farmacĂȘuticas,
de que pode haver migração dos pacientes
para diagnĂłstico e tratamentos em centros universitĂĄrios
de referĂȘncia para a inovação mĂ©dica
no paĂs, e de que a opção por serviços pĂșblicos se
dĂĄ por sua capacidade tĂ©cnica e cientĂfica superior
à de outras instituiçÔes. Logo, a advocacia
privada, indicadores de exclusĂŁo social do local de
residĂȘncia dos pacientes e uso de serviços pĂșblicos
não são informaçÔes de classe que corroborem ou
refutem a tese da judicialização pelas elites. _________________________________________________________________________________ ABSTRACTThis paper evaluates the hypothesis that
the judicialization of medicine for mucopolysaccharidosis
in Brazil is an action promoted by economic
elites. Previous studies upholding the thesis
of judicialization by elites in the case of other
types of medication that are more costly for the
Unified Health Service are discussed. An analysis
of all 196 processes containing information about
judicial processes brought to court between February
2006 and December 2010 that ended by
determining that the State should provide such
medication free of charge to patients was conducted.
There is evidence that attorneysâ fees were
covered by entities interested in the results of judicialization,
such as the distributors or pharmaceutical
industries. Patients may also be migrating
for diagnosis and treatment to university
centers that are a benchmark for medical innovation
in the country, as the option for public
health services is related to their higher technical
and scientific capacity. Therefore, the resort to
private lawyers, indicators of social exclusion
based on the address of patients and the use of
public health services, are not adequate class information
to corroborate or refute the thesis of
judicialization by the elites
Clinical genetics and public policies: how should rare diseases be managed?
The implementation of a specific policy for rare diseases in the Brazilian Unified Health System presents challenges in terms of its rationale. Recognizing the importance of rarity in the context of public health means understanding genetics as one of the dimensions of disease and accepting thatBrazilis undergoing a period of transition in health indicators. Although most rare diseases lack pharmacological treatment and genetic counseling constitutes the best strategy for their prevention, the cost of âorphan drugsâ and their consequent lack of cost-effectiveness are still claimed as hurdles to the implementation of public policies in this field. Epidemiological aspects should not be used as isolated criteria for prioritization in public policies
Development of an inventory to assess perceived barriers related to PKU treatment
Background: According to studies of phenylketonuria (PKU), the Brazilian populationâs metabolic control shows unsatisfactory indexes from childhood. Research on patientsâ perceived difficulties or barriers to adherence to treatment can help us to comprehend how these outcomes are associated. The present study aimed to: (1) describe the development of an inventory for identifying the most frequent and relevant perceived barriers to PKU treatment from the perspective of patients, caregivers, and healthcare professionals; (2) evaluate certain psychometric characteristics of the new measure; and, (3) explore potential predictors (sociodemographic and medical characteristics) that may contribute to increasing the number of perceived barriers and examine whether the number of barriers is associated with the degree of adherence shown by the patient. Results: Participants in the study were 23 patients with PKU (M age = 18.0 years; SD = 7.3; range 6 to 34 years; 69% early-treated) in classical (n = 11) and mild (n = 12) form, and 11 caregivers. The inventory, developed to ascertain perceived barriers to treatment, was completed by patients (â„ 13 years) and caregivers of patients aged 6 to 17 years. Analyses were conducted to investigate whether barrier inventory scores were associated with adherence to treatment as measured by phenylalanine levels in patientsâ medical records. Scores on the inventory differed across the patient age groups: adolescents had lower scores (i.e. reported fewer barriers) compared with those of adults (U = 8.000, p = 0.008); patients with better recent metabolic control also reported fewer perceived barriers than did patients with poor adherence (U = 20.000, p = 0.009); and the number of perceived barriers was positively associated with recent blood phenylalanine concentration (Kendallâs taub = 0.41; p = 0.001). Conclusions: These results suggest that the inventory has merit in assessing perceived barriers and support the need for further research on barriers perceived by PKU patients
Evaluation of the Danish version of the Prenatal Parental Reflective Functioning Questionnaire in early pregnancy as a screening tool
ACKNOWLEDMENTS This study was supported by grants from the Capital Region of Copenhagen, Trygfonden, and Lundbeckfonden. We declare that these funders had no input to the study design, collection, analysis, interpretation of data or to the drafting of the manuscript. Funding information Capital Region of Copenhagen, Grant/Award Number: 19035774; Trygfonden, Grant/Award Number: 125227; Lundbeckfonden, Grant/Award Number: PW021220Peer reviewedPublisher PD
Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review
Most lysosomal diseases (LD) are inherited as autosomal recessive traits, but two important conditions have X-linked inheritance: Fabry disease and Mucopolysaccharidosis II (MPS II). These two diseases show a very different pattern regarding expression on heterozygotes, which does not seem to be explained by the X-inactivation mechanism only. While MPS II heterozygotes are asymptomatic in most instances, in Fabry disease most of female carriers show some disease manifestation, which is sometimes severe. It is known that there is a major difference among X-linked diseases depending on the cell autonomy of the gene product involved and, therefore, on the occurrence of cross-correction. Since lysosomal enzymes are usually secreted and uptaken by neighbor cells, the different findings between MPS II and Fabry disease heterozygotes can also be due to different efficiency of crosscorrection (higher in MPS II and lower in Fabry disease). In this paper, we review these two X-linked LD in order to discuss the mechanisms that could explain the different rates of penetrance and expressivity observed in the heterozygotes; this could be helpful to better understand the expression of X-linked traits
Prevalence of thrombophilia and thrombotic events in patients with fabry disease in a Reference Center for Lysosomal Disorders in Southern Brazil
Introduction: Venous thromboembolism (VTE) is a multifactorial genetic disorder that occurs in approximately one in a thousand adults per year. Because there is no laboratory test or clinical marker useful for predicting which patients with Fabry disease may develop thrombotic events, this study aimed to determine whether there is a hereditary predisposition to hypercoagulation in these patients. Methods: The prevalence of p.R506Q mutation in the factor V gene and of c.G20210A mutation in Factor II (prothrombin) gene was evaluated in 39 patients with Fabry disease from Southern Brazil and correlated with clinical findings. The DNA analysis was performed by real-time polymerase chain reaction on genomic DNA using TaqMan probes. Results: In this group of patients, the frequency of mutation in the prothrombin gene was 1.28%, whereas no patient showed mutation in the factor V gene; additionally, there was no correlation between these mutations and the incidence of thrombotic events. Conclusion: Hereditary thrombophilia due to mutations in factor V and prothrombin genes does not seem to be related to thrombotic events in Fabry patients in our cohort, although studies in larger cohorts and the inclusion of additional factors may be required to determine if a correlation exists
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