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1.
Case Rep Genet ; 2016: 9814928, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26904320

RESUMO

Osteoporosis-pseudoglioma (OPPG) syndrome is a very rare autosomal recessive disorder, caused by mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene. It manifests by severe juvenile osteoporosis with congenital or infancy-onset visual loss. We describe a case of OPPG due to novel mutation in LRP5 gene, occurring in a female Mauritanian child. This 10-year-old female child was born blind, and after then multiple fragility fractures appeared. PCR amplification and sequencing revealed a novel homozygous nonsense mutation in exon 10 of the LRP5 gene (c.2270G>A; pTrP757(⁎)); this mutation leads to the production of a truncated protein containing 757 amino acids instead of 1615, located in the third ß-propeller domain of the LRP5 protein. Both parents were heterozygous for the mutation. This is the first case of the OPPG described in black Africans, which broadens the spectrum of LRP5 gene mutations in OPPG.

2.
Vaccine ; 29(3): 363-9, 2011 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-21111779

RESUMO

The burden of influenza disease is to a large extent unknown for the African continent. Moreover, the interaction of influenza with common infectious diseases in Africa remains poorly described. Solid scientific evidence on the influenza disease burden in Africa is critical for the development of effective influenza vaccine policies. On 1st and 2nd June 2010 in Marrakech, Morocco, over eighty surveillance and influenza experts from 22 African countries as well as Europe and America met at the 'Afriflu' conference to discuss influenza challenges and solutions for the continent. During the meeting, participants exchanged their experiences and discussed a wide variety of topics related to influenza in Africa, including diagnosis, surveillance, epidemiology, and interventions. The meeting concluded with a pledge to improve influenza knowledge and awareness in Africa, with an emphasis on accurate determination of disease burden to help orient public health policies.


Assuntos
Influenza Humana/epidemiologia , África/epidemiologia , Humanos , Influenza Humana/diagnóstico , Influenza Humana/prevenção & controle , Influenza Humana/terapia
3.
Arch Inst Pasteur Madagascar ; 63(1-2): 56-9, 1996.
Artigo em Francês | MEDLINE | ID: mdl-12463019

RESUMO

The number of acute flaccid paralysis (AFP) cases reported to World Health Organization (WHO) decreased from 1988 (48 cases) to 1996 (8 cases), but the real endemic situation of poliomyelitis is unknown. Cases are under or misreported. Very often, notifications are delayed; virological investigations of the etiology could not be performed as well as the environment studies and the immunization ripostes. In 1996, only one AFP case was confirmed by isolation of wild poliovirus. The immunization coverage in children under one by OPV (3 doses) was 73.0% in 1996 from the statistics of the Public Health Services but only 54.7% from randomized studies. The eradication of poliomyelitis by the year 2000 has engaged Madagascar in the disease prevention by improving the immunization coverage within the Expanded Immunization Programme in association with the Organization of National Immunization Days in October and November 1997. Likewise, the Virological Unit of the Pasteur Institute was recognized as the National WHO Reference Centre for Polio.


Assuntos
Poliomielite/epidemiologia , Poliomielite/prevenção & controle , Organização Mundial da Saúde , Adolescente , Distribuição por Idade , Criança , Pré-Escolar , Notificação de Doenças , Doenças Endêmicas/prevenção & controle , Doenças Endêmicas/estatística & dados numéricos , Humanos , Lactente , Madagáscar/epidemiologia , Poliomielite/diagnóstico , Poliomielite/virologia , Vigilância da População , Programas Médicos Regionais , Vacinação/métodos , Vacinação/estatística & dados numéricos
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