Relato de viagem: Congresso de NF em Barcelona, Seminário em Doenças Raras em
Coimbra e encontro com a Associação Portuguesa de NF em Lisboa.
Por Dr Luiz Oswaldo Carneiro Rodrigues
Thalma e eu, representando a Amanf, comparecemos a três eventos no mês de
setembro de 2014 na Europa. As três oportunidades transformaram-se em novos
contatos, aprendizados importantes e estreitamento dos laços de cooperação com
outras associações.
Dr Luiz Oswaldo diante de um dos pôsteres apresentados em Barcelona.
O Congresso Europeu de NF, este ano realizado em Barcelona, é um evento com
menor número de participantes do que o congresso internacional promovido pelo
Children’s Tumor Foundation nos Estados Unidos, ao qual nosso grupo do Centro de
Referência em Neurofibromatoses do HC-UFMG tem comparecido anualmente e neste
ano de 2014 contou com a participação de participantes do CRNF HC UFMG: Dr Nilton
Alves de Rezende, Dra. Juliana Ferreira de Souza e doutorando Marcio de Souza. A
principal diferença entre os dois eventos, além da maior participação de cientistas,
médicos e familiares europeus, parece-me ser a maior atenção dada às associações de
apoio no encontro europeu.
Como geralmente ocorre, em Barcelona, alguns novos tijolos foram acrescentados à
construção lenta e firme do edifício de conhecimentos sobre as neurofibromatoses,
em especial o destaque à necessidade de maior prevenção do câncer de mama nas
mulheres com NF1.
No evento, apresentamos três temas livres (conteúdo completo dos resumos
disponível abaixo), abordando a menor tolerância ao calor nas pessoas com NF1 e a
documentação fotográfica comprovando cerca de 6% de incidência do segundo sinal
dos dedos dos pés nas crianças com NF1. Além disso, em parceria com o Rogério
Martins, fundador da Associação Maria Vitória de Doenças Raras (AMAVI),
apresentamos um pôster que mostra a diferença do modo de ação das associações de
NF e das associações de doenças raras, pois estas últimas parecem contar com maior
interesse financeiro da indústria farmacêutica.
Em Coimbra, participamos de um Seminário sobre Experiências e Trajetórias de
Cuidados de Saúde: as Doenças Raras em Debate, 23 de setembro de 2014, Centro de
Estudos Sociais, Universidade de Coimbra. No qual apresentei uma palestra sobre as
características das NF que são compartilhadas com as demais doenças raras: DOR Desconhecimento científico – Omissão institucional – Representação social
inexistente. O seminário foi muito rico nas demais participações, com destaque para o
geneticista Dr. Jorge Sequeiros, que mostrou a complexa estrutura da Eurordis e as
políticas internacionais para as doenças raras. Mais informação em:
http://www.ces.uc.pt/eventos/index.php?id=10292&id_lingua=1&pag=10294
Final da reunião com a Associação Portuguesa de NF em Lisboa.
Em Lisboa, fomos recebidos pela advogada Lucia Lemos, presidente da Associação
Portuguesa de Neurofibromatoses e pela geneticista pediatra Dra. Isabel Cordeiro do
Serviço de Pediatria do Hospital de Santa Maria, Lisboa. O encontro, no dia 24 de
setembro de 2014, de 17.30 às 21 horas, foi denominado “À Conversa com Dr. Luiz
Oswaldo”, no qual pude apresentar nossa experiência brasileira e realizamos uma
proveitosa discussão sobre o enfrentamento das NF. Mais informações em:
http://www.apnf.eu
No retorno ao Brasil, apresentamos oralmente nossas impressões durante a reunião
da Amanf de setembro, ocasião em que transmitimos nossa impressão de que as
dificuldades enfrentadas pelas pessoas brasileiras com NF são bastante semelhantes
àquelas encontradas por pessoas com NF de outros países. Acreditamos que as
características competitivas, elitistas e injustas de uma sociedade de classes baseada
na exploração do trabalho humano, agravam em muito o sofrimento natural causado
pelas neurofibromatoses.
A seguir, os resumos levados ao Congresso de Barcelona.
Figure 1 – Some typical pictures of Second Toe Signal Phenotype in (at
least) three criteria NF1 individuals –
European NF Meeting Barcelona 2014 CODE 0269
Photographic prevalence of the Second Toes Signal phenotype in Neurofibromatosis
Type 1 (NF1)
Authors : Rodrigues LOC MD PhD; Diniz LM MD PhD; Cunha KGS PhD; Darrigo-Junior
LG MD PhD; Passos RLF MSc; Geller M MD PhD; Rezende NA MD PhD.
Institution/University: Neurofibromatosis Outpatient Reference Center, Federal
University of Minas Gerais, Belo Horizonte, Brazil
Background – Early seven-consensus criteria NF1 diagnosis is useful for clinical
management of complications and genetic counseling. Any other specific congenital NF1
signal could help to assure NF1 diagnose. Our group previously reported a questionnaire
prevalence of 12% of a new NF1 phenotype (1), which consists of the up righting of
second toes of both feet, which we have nominated Second Toes Signal (STS).
Aim – To verify the prevalence of STS by photographic recording in the first 200 NF1
individuals attained to an outpatient reference center compared to 200 random
unaffected controls. Methods – A 187 NF1 volunteers (presenting at least three NIH
diagnostic criteria) and 194 unaffected random volunteers controls have had their feet
photographed and evaluated for STS presence, which was verified by four separated
clinical doctors. Data was presented as positive frequency and it was compared using
qui-squared test. Significance was set at P<0.05. Results – The mean four examiners
consensus results were: STS was positive in 5.8% in NF1 volunteers and zero in
unaffected controls (P<0.05). Conclusion – Photographic documentation and four
examiners evaluation indicate that STS is probably a specific and congenital NF1 signal
that could be useful to help early diagnosis through clinical examination. Granting
agencies: FAPEMIG, CAPES e CNPQ
Figure 4 – Heat thermoregulatory autonomic responses model. EC: environmental conditions; TS:
thermal stimulus; SR: sweat rate; TT: tympanic temperature used as an indirect measurement of
central nervous system temperature; CT: cutaneous temperature; HR: heart rate used as an indirect
measurement of cardiac sinus rhythm; AP: arterial pressure (systolic: used as an indirect
measurement of cardiac contractility – diastolic: used as an indirect measurement of active
vasodilation); HTC: Hypothalamic and other temperature modulator centers; PR: peripheral
resistance. Arrows in red: sympathetic autonomic pathways responses to heat stimuli involves: 1)
venous constriction; 2) increased heart rate; 3) increased cardiac contractility; 4) increased arterial
vasoconstriction; 5) increased sweat rate (cholinergic); 6) increased arterial vasodilation
(cholinergic/NO mediated).
European NF Meeting 2014 – CODE 0268
Neurofibromatosis type 1 individuals have reduced heat tolerance.
Authors: Luiz OC Rodrigues MD PhD, Luciana G Madeira MS; Juliana F Souza MD PhD;
Renata LF Passos MS; Nilton A de Rezende MD PhD; Nilo RV Lima PhD.
Institution/University: Neurofibromatosis Outpatient Reference Center, Federal
University of Minas Gerais, Belo Horizonte, Brazil. Email: [email protected]
Background: During increased environmental temperature and body metabolism,
human internal temperature is maintained within a short-range through heat dissipation
by sweat evaporation and cutaneous vasodilation. Some diseases impair
thermoregulation, which increases the risk of heat injuries and death.
Neurofibromatosis type 1 (NF1) skin lesions, neural dysplasia and lower aerobic capacity
could influence both sweat and vascular responses to thermal stress. However, NF1
individuals’ heat tolerance is not known. Aims – To compare heat tolerance of NF1 with
non-NF1 individuals. Methods – Volunteers were 14 males (M) and 11 females (F) with
NF1, aged 16-57 years with 23 non-NF1 individuals (control group – CG) matched by sex,
age, height and weight. Sweat was experimentally induced twice: 1) by pilocarpine 1%
iontophoresis (PILO) and 2) by passive heating (HEAT), using lower-leg immersion into
42°C water during one hour in environmental temperatures 28-30°C. Paper filters were
used to measure sweat rate (SR) in forearm, chest, back and tight and the number of
active sweat glands (GSA) was counted using iodine-paper technique. Tympanic (TT) and
mean skin (ST) temperatures, heat storage rate (HSR), heart rate (HR), and arterial
pressure were recorded. Data are presented in mean ± SD, and significance was set at
p<0.05. Results – NF1 groups displayed lower SR during PILO (forearm: MNF1=0.42±0.16
versus MCG=0.71±0.31 mg.cm-2.min-1) and during HEAT (forearm: MNF1=1.77±0.70
versus MCG=2.57±0.68 mg.cm-2.min-1); GSA was similar in PILO, but lower in NF1 in HEAT
(MNF1=77±16 versus MCG=70±22 gland.m-2). NF1 showed larger increased TT
(MNF1=0.75±0.33 MCG=0.32±0.13°C) during HEAT protocol. HSR was higher in NF1
(MNF1=3211.6±236.2 versus MCG=93.0±1171.4 J.min-1.m²) and there was a smaller
diastolic pressure decrease in NF1 (MNF1=-1.69±4.29 versus MCG=-6.73±4.43 mmHg).
This abstract contains only male data, but females results were identical in both NF1 and
control individuals. Conclusion – NF1 individuals presented markedly reduced sweat
response to pilocarpine and heating and impairment in thermal vasodilation response,
which caused a higher heat storage and 0.6°C increased tympanic temperature. The
results suggest that NF1 causes reduced thermoregulatory response (autonomic central
and/or peripheral dysfunction?), which can lead to higher risk of heat illnesses during
heat stress and/or exercise. Grant Acknowledgement: CAPES, CNPQ.
Industry
RD Associations
Rare
diseases
Social
mobilization/
knowledgment
Politics
NF
?
NF Associations
Society
Title: Differences between the behavior of associations: Rare Disease versus
Neurofibromatosis
Authors : Rogério Lima Barbosa1;Oswaldo Luiz Carneiro Rodrigues2 Institutions :
1Center for Social Studies, University of Coimbra, Coimbra, Portugal, Fellow of CAPES
BEX 10006-13/3; 2Neurofibromatosis Outpatient Reference Center, Federal University
of Minas Gerais, Belo Horizonte, Brazil.
Background: The growing movement to disclosure of rare diseases (RD) in the
worldwide involves associations dealing with some particular rare disease, such as
Neurofibromatosis (NF). It is not known whether these associations accompany
similarly actions for promotion the information about diseases, mobilizing society and
awareness of the political class realized by rare diseases associations (RDA). Aim: To
compare the typical activities of associations of NF (ANF) with those developed by the
RDA. Method: Data collection through interviews with leaders of ANF in Brazil and
analysis in exposed sites of ANF and RDA in Brazil, Portugal and England. Results: The
ADR working as an "umbrella" model, in order to address matters of various diseases.
Financial resources are, almost entirely, the pharmaceutical and biotechnology
industry. In contrast, the ANF have maintained by donations from individuals and / or
entities and in the Brazilian reality; do not receive financial support from
pharmaceutical or biotechnology industries. Possible causes for these differences of
resources are RDA: 1) the perform advocacy work with the Government tends to favor
the diseases that have drug treatments available; 2) the multiplicity of RD under the
same conditions attains a larger number of individuals. For the ANF: 1) the focus of
attention on a specific group of diseases, which do not have available medicines; 2) the
lack of a common factor that can unite the ANF. There seems to be a certain gap
between ANF and industry whose causes need further studies. As a hypothesis is that
the interests of industry in research to study other matrix of disease, in particular
cancer and the interest to building Bio banks. For greater inclusion of ANF in the
movement of RDA is required convergence of actions to care beyond medication.
Conclusion: There are important differences in mode of action between the ANF and
RDA due to the low economic interest in NF.