Cystic Fibrosis: Brazilian ENT Experience

Sih, Tânia; Godinho, Ricardo; Franco, Letícia Paiva; Piltcher, Otávio Bejzman

doi:10.1155/2012/204696

Cited by 5 publications

(3 citation statements)

References 45 publications

(69 reference statements)

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“…A limited number of Brazilian states (São Paulo, Minas Gerais, and Parana e Santa Catarina) perform complementary molecular analysis, and this is usually restricted to the c.1521_1523delCTT (legacy: F508del) variant [18,19]. The remaining Brazilian states have limited financial resources to perform molecular tests for CF.…”

Section: Resultsmentioning

confidence: 99%

Cystic Fibrosis: A Simple and Customized Strategy for Genetic Screening Able to Detect Over 90% of Identified Mutated Alleles in Brazilian Newborns

et al. 2020

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IntroductionThe incorporation of molecular genetic testing into cystic fibrosis (CF) screening programs increases the specificity of the diagnostic strategy and has the potential to decrease the rate of false-positive results. In this sense, our objective was to develop a genotyping assay that could detect 25 pathogenic variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene with high sensitivity and that could be incorporated into the routine of newborn screening, complementing the current existing protocol used in our public health institution. Methods A mini-sequencing assay was standardized using single-base extension in a previously genotyped control sample. This strategy was validated in a Brazilian cohort of CF patients by Sanger sequencing. ResultsThe inclusion of the 25 variants in the current newborn screening program increased the identification rates of two alleles from 33 to 52.43% in CF patients. This new approach was able to detect a total of 37 variants, which represents 93.01% of all mutated alleles described in the last CF Brazilian Register. Conclusions Mini-sequencing for the simultaneous detection of 25 CFTR gene variants improves the screening of Brazilian newborns and decreases the number of inconclusive cases. This method uses minimal hands-on time and is suited for rapid screening, which reduces sample processing costs.

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Section: Resultsmentioning

confidence: 99%

Cystic Fibrosis: A Simple and Customized Strategy for Genetic Screening Able to Detect Over 90% of Identified Mutated Alleles in Brazilian Newborns

et al. 2020

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“… 4 Nasal tumors, fibrous dysplasia, and cystic fibrosis are rarely associated causes, and the last one should be remembered in cases in children. 5 6 …”

Section: Discussionmentioning

confidence: 99%

Sudden Hemianopsia Secondary to Ethmoid Sinus Mucocele

Morganti

Evangelista

Guimarães

et al. 2014

Int. Arch. Otorhinolaryngol.

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“…Cystic fibrosis (CF) is the most frequent autosomal recessive disorder of European descent populations, with an incidence of 1:2000–1:8000 live newborns. 1 , 2 Mutations of the CF transmembrane conductance regulator (CFTR) gene lead to a defective secretion of chloride and a hyperabsorption of sodium. This results in depletion of airways surface liquid, which creates abnormally thick and viscous mucus.…”

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confidence: 99%

Microbiology of the middle meatus compared to sputum in young patients with cystic fibrosis from Bahia – Brazil

Tunes¹,

Reis²,

Terse³

et al. 2014

The Brazilian Journal of Infectious Diseases

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Lower airway infection is a major cause of morbidity and mortality in patients with cystic fibrosis. It is currently unknown if the infection of the upper airway can cause exacerbation of lower respiratory tract infection. This study aimed to determine the microbiological profile of the anterior paranasal sinuses outflow tract (middle meatus) of cystic fibrosis outpatients. The microbiological profile was defined using endoscopically directed middle meatal cultures. Paired middle meatal and sputum specimens were collected from 56 outpatients for aerobic cultures. A semi-quantitative leukocyte count of the middle meatal samples was performed. The median age of patients was nine years (3-20 years). Staphylococcus aureus (37%), Staphylococcus coagulase-negative (25%), Neisseriac (14%), Pseudomonas aeruginosa (11%), and Streptococcus pneumoniae (7%) were the most prevalent microorganisms in the middle meatal cultures. Using the middle meatal leukocyte count, 16 out of 54 patients (29.6%) presented sinus infection. The most frequently identified pathogens in patients with sinus infections were Staphylococcus aureus (10 patients), Pseudomonas aeruginosa (4 patients), and Streptococcus pneumoniae (3 patients). Agreement of paired middle meatal and sputum cultures was significantly higher among patients with infection in middle meatal (69%). The most common middle meatal pathogens were the typical cystic fibrosis spectrum. This suggests the potential for participating in post-nasal lower airway seeding.

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Cystic Fibrosis: Brazilian ENT Experience

Cited by 5 publications

References 45 publications

Cystic Fibrosis: A Simple and Customized Strategy for Genetic Screening Able to Detect Over 90% of Identified Mutated Alleles in Brazilian Newborns

Cystic Fibrosis: A Simple and Customized Strategy for Genetic Screening Able to Detect Over 90% of Identified Mutated Alleles in Brazilian Newborns

Sudden Hemianopsia Secondary to Ethmoid Sinus Mucocele

Microbiology of the middle meatus compared to sputum in young patients with cystic fibrosis from Bahia – Brazil

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