In Time: Importância E Implicações Globais Datriagem Neonatal Para a Imunodeficiência Grave Combinada

Meehan, Cristina; Bonfim, Carmem; Dasso, Joseph F.; Costa‐Carvalho, Beatriz Tavares; Condino‐Neto, Antônio; Walter, Jolán E.

doi:10.1590/1984-0462/;2018;36;4;00020

Cited by 5 publications

(9 citation statements)

References 54 publications

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“…Infections are frequent among patients with AT, mainly in the upper and lower respiratory tract (pneumonia, bronchitis, otitis, and sinusitis), varying from 40-70% among studies [15,16,17,18,22]. As also shown by our analysis, bacteria are the most frequent pathogens.…”

Section: Discussionsupporting

confidence: 67%

“…As also shown by our analysis, bacteria are the most frequent pathogens. Some relevant viral infections and opportunistic agents have also been reported [22,23], but much less often (< 10% and < 2% of cases, respectively). In addition, bronchiectasis is commonly described, probably due to recurrent lower respiratory tract infections and chronic in ammation [9,16].…”

Section: Discussionmentioning

confidence: 99%

“…In the cellular compartment, CD3+, CD4+, CD8 + and CD19 + lymphopenias were present in most cases. These abnormalities of the adaptive immune system were observed by most cohorts [9,15,16,22,24,17,25], some of them even suggesting the "hyper IgM pro le" to be included in the diagnostic criteria [18].…”

Section: Discussionmentioning

confidence: 99%

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Ataxia-telangiectasia in Latin America: clinical features, immunodeficiency, and mortality in a multicenter study

Pereira,

Dantas,

Loekmanwidjaja

et al. 2024

Immunol Res

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Section: Discussionsupporting

confidence: 67%

Section: Discussionmentioning

confidence: 99%

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Ataxia-telangiectasia in Latin America: clinical features, immunodeficiency, and mortality in a multicenter study

Pereira,

Dantas,

Loekmanwidjaja

et al. 2024

Immunol Res

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“…Da mesma forma que para o TCTH, a possibilidade de início do tratamento deve ser iniciada precocemente (Kanegae et al, 2016;Meehan et al, 2018).…”

Section: Introductionunclassified

Triagem neonatal para síndrome da imunodeficiência combinada grave

Bomfim

Araújo²,

Treptow³

et al. 2022

RSD

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A imunodeficiência combinada grave (SCID), também conhecida como “doença do menino da bolha” é um defeito grave na imunidade celular e humoral que torna as crianças suscetíveis à infecções. Seu diagnóstico se dá através da Triagem Neonatal, e no Brasil é feita pelo teste do pezinho. O tratamento é feito a partir do Tratamento de Células-Tronco Hematopoiéticas (TCTH). O diagnóstico tardio ou a ausência de tratamento podem ocasionar sequelas ou óbitos. Portanto, é importante implementar a triagem neonatal para detectar os casos de SCID precocemente para evitar danos irreversíveis. Por isso, o objetivo desta revisão é avaliar a triagem neonatal para imunodeficiência combinada grave e sua contribuição para os portadores. Trata-se de uma revisão sistemática de literatura aprovada pela plataforma PROSPERO sob nº CDR42020206341, realizada nas bases MEDLINE, LILACS, nos idiomas inglês, português e espanhol, a ser revisados por dois autores independentes. Serão incluídos ensaios clínicos randomizados e não randomizados, ensaios de caso controle, estudos de coorte e estudos transversais, nos últimos cinco anos. Após a busca combinada e aplicação dos críterios de inclusão e exclusão foram selecionados 12 artigos para compor a amostra final. A triagem neonatal é realizada por diferentes métodos ao redor do mundo, no entanto, independente de como seja feita, é possível notar a sua importância dentro da saúde de neonatos. A facilidade na coleta contribui para uma assistência de qualidade, e as informações oferecidas durante o pré-natal garantem que os genitores estejam cientes da necessidade em realizar o exame para identificar de forma precoce patologias que podem ocasionar sequelas e até óbitos.

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“…A need for toxoplasmosis NBS in Brazil and elsewhere has also been questioned [1162]. The opportunities for expanded NBS have included studies of SCID [1163][1164][1165], LSDs [1121,[1166][1167][1168], SMA [1169], and Prader-Willi and Angelman syndromes [1170]. NHS also has expanded as equipment and speech therapists have become available so that over 65% of newborns now receive hearing screening.…”

mentioning

confidence: 99%

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

Therrell,

Padilla,

Borrajo

et al. 2024

IJNS

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Newborn bloodspot screening (NBS) began in the early 1960s based on the work of Dr. Robert “Bob” Guthrie in Buffalo, NY, USA. His development of a screening test for phenylketonuria on blood absorbed onto a special filter paper and transported to a remote testing laboratory began it all. Expansion of NBS to large numbers of asymptomatic congenital conditions flourishes in many settings while it has not yet been realized in others. The need for NBS as an efficient and effective public health prevention strategy that contributes to lowered morbidity and mortality wherever it is sustained is well known in the medical field but not necessarily by political policy makers. Acknowledging the value of national NBS reports published in 2007, the authors collaborated to create a worldwide NBS update in 2015. In a continuing attempt to review the progress of NBS globally, and to move towards a more harmonized and equitable screening system, we have updated our 2015 report with information available at the beginning of 2024. Reports on sub-Saharan Africa and the Caribbean, missing in 2015, have been included. Tables popular in the previous report have been updated with an eye towards harmonized comparisons. To emphasize areas needing attention globally, we have used regional tables containing similar listings of conditions screened, numbers of screening laboratories, and time at which specimen collection is recommended. Discussions are limited to bloodspot screening.

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In Time: Importância E Implicações Globais Datriagem Neonatal Para a Imunodeficiência Grave Combinada

Cited by 5 publications

References 54 publications

Ataxia-telangiectasia in Latin America: clinical features, immunodeficiency, and mortality in a multicenter study

Ataxia-telangiectasia in Latin America: clinical features, immunodeficiency, and mortality in a multicenter study

Triagem neonatal para síndrome da imunodeficiência combinada grave

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

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