Neonatal screening for cystic fibrosis in São Paulo State, Brazil: a pilot study

Cystic fibrosis is one of the most common autosomal recessive hereditary diseases in the Caucasian population, with an incidence of 1:2000 to 1:3500 liveborns. More than 1000 mutations have been described with the most common being F508del. It has a prevalence of 23-55 percent within the Brazilian population. The lack of population-based studies evaluating the incidence of cystic fibrosis in São Paulo State, Brazil, and an analysis concerning the costs of implantation of a screening program motivated the present study. A total of 60,000 dried blood samples from Guthrie cards obtained from April 2005 to January 2006 for neonatal screening at 4 reference centers in São Paulo State were analyzed. The immunoreactive trypsinogen (IRT)/IRT protocol was used with the cut-off value being 70 ng/mL. A total of 532 children (0.9 percent) showed IRT >70 ng/mL and a 2nd sample was collected from 418 (80.3 percent) of these patients. Four affected children were detected at two centers, corresponding to an incidence of 1:8403. The average age at diagnosis was 69 days, and 3 of the children already showed severe symptoms of the disease. The rate of false-positive results was 95.2 percent and the positive predictive value for the test was 8 percent. The cost of detecting an affected subject was approximately US$8,000.00 when this cystic fibrosis program was added to an existing neonatal screening program. The present study clearly shows the difficulties involved in cystic fibrosis screening using the IRT/IRT protocol, particularly in a population with no long-term tradition of neonatal screening.

Neonatal screening for cystic fibrosis in São Paulo State, Brazil: a pilot study.

Cystic fibrosis is one of the most common autosomal recessive hereditary diseases in the Caucasian population, with an incidence of 1:2000 to 1:3500 liveborns. More than 1000 mutations have been described with the most common being F508del. It has a prevalence of 23-55% within the Brazilian population. The lack of population-based studies evaluating the incidence of cystic fibrosis in São Paulo State, Brazil, and an analysis concerning the costs of implantation of a screening program motivated the present study. A total of 60,000 dried blood samples from Guthrie cards obtained from April 2005 to January 2006 for neonatal screening at 4 reference centers in São Paulo State were analyzed. The immunoreactive trypsinogen (IRT)/IRT protocol was used with the cut-off value being 70 ng/mL. A total of 532 children (0.9%) showed IRT >70 ng/mL and a 2nd sample was collected from 418 (80.3%) of these patients. Four affected children were detected at two centers, corresponding to an incidence of 1:8403. The average age at diagnosis was 69 days, and 3 of the children already showed severe symptoms of the disease. The rate of false-positive results was 95.2% and the positive predictive value for the test was 8%. The cost of detecting an affected subject was approximately US$8,000.00 when this cystic fibrosis program was added to an existing neonatal screening program. The present study clearly shows the difficulties involved in cystic fibrosis screening using the IRT/IRT protocol, particularly in a population with no long-term tradition of neonatal screening.

Susceptibility profile of 200 bloodstream isolates of Candida spp. collected from Brazilian tertiary care hospitals.

We evaluated the antifungal susceptibility profile of 200 recent bloodstream isolates of Candida spp. sequentially obtained from patients admitted to five tertiary care hospitals in Brazil. Isolates were identified by classical methods and the antifungal susceptibility profile was determined by the NCCLS microbroth assay method. Candida albicans was the most frequent species (41.5%); followed by C. tropicalis (24%) and C. parapsilosis (20.5%). The frequency of C. glabrata and C. krusei was low (nine and two isolates, respectively). Only three strains were resistant to fluconazole (two C. krusei and one C. glabrata) and only one was resistant to itraconazole (the same C. glabrata strain that was resistant to fluconazole). Two strains were considered susceptible dose-dependent (SDD) to fluconazole and 13 isolates (6.5%) were SDD to itraconazole. Overall, the MIC50 value of non-C. albicans isolates for fluconazole was two dilutions higher than that of C. albicans isolates, and for itraconazole was one dilution higher. Resistance to amphotericin B (MIC > or = 2 microg ml(-1)) was observed in 2.5% of isolates (two strains of C. albicans, two of C. parapsilosis and one of C. krusei). This study showed that episodes of candidemia in Brazilian public hospitals are represented mainly by fluconazole-susceptible non-C. albicans species. This finding is probably related to the low use of fluconazole in these hospitals.

First confirmed case of a vancomycin-resistant Enterococcus faecium with vanA phenotype from Brazil: isolation from a meningitis case in São Paulo.

The importance of enterococci as a nosocomial etiologic agent is well documented; however, enterococci are also capable of causing a variety of community-acquired infections. Vancomycin resistance in a clinical Enterococcus isolate was first reported in 1986, and since then vancomycin-resistant enterococci (VRE) have been reported world-wide. This report describes a case of E. faecium with the VanA phenotype, isolated from meningitis in Sao Paulo, Brazil. Two E. faecium strains were isolated. One strain showed VanA phenotype, and the molecular characterization of the VanA gene was confirmed by polymerase chain reaction. The other strain was susceptible to vancomycin and teicoplanin. The authors would like to call the attention of the scientific community to this first identification of a VRE case in Sao Paulo, Brazil.

[Diagnostic of congenital syphilis: a comparison between serological tests in mothers and their newborns]. / Diagnóstico de sífilis congênita: comparação entre testes sorológicos na mãe e no recém-nascido.

For the purpose of establishing the incidence of maternal and congenital syphilis among pregnant women at delivery and their respective newborns, a study was carried out to determine treponemic and non-treponemic serology in one thousand (1,000) parturient women and their children at Santa Marcelina Hospital - São Paulo, between June 95 and July 96. All blood samples (maternal venous, umbilical cord and newborn venous) were VDRL-tested, treponemic tests (TPHA, ELISA IgG, ELISA IgM) being applied whenever one of the samples from mother or newborn proved positive. Further, an anti-HIV search was run through ELISA among VDRL-positive mothers. Among the 1,000 parturients, 24 (2.4%) were found to be VDRL-reactive; 18 (1.8%) newborn children of these 24 mothers presented positive serology in their umbilical cord blood and 19 (1.9%) in venous blood. No positive newborns were found for negative mothers. From the high occurrence of maternal and congenital syphilis in this group of patients, we propose a VDRL maternal test as a way of selecting gestational and congenital syphilis cases, since this test appeared to be sufficiently capable of such diagnoses. Of the treponemic tests, the ELISA test did not enhance diagnostic sensitivity.

[Immunological indicators (IgM and C-reactive protein) in neonatal infections]. / Indicadores imunológicos (IgM e proteína C-reativa) nas infecções neonatais.

UNLABELLED: Sepsis in the neonatal age is associated with risk factors for infections and with the immunological state of the newborn infant. BACKGROUND: Verify if IgM and C-reactive protein were indicators of infection in newborn infants with risk factors. MATERIAL AND METHODS: We studied 57 newborn infants that had: premature rupture of amniotic membranes associated ou no with clinical amniotics or with urinary tract infection. They were classified in three gestational age groups (< 34 weeks, between 34-36 6/7 and (37 weeks) Sepsis diagnosis was made through clinical and laboratorial criterious and we also included: IgM and C-reactive protein obtained of the newborn at birth and at fifth day of life. RESULTS: Sepsis diagnosis was made in 18 (31.5%) of 57 newborn infants, 13 (22.8%) with early sepsis and 5 (8.7%) with late sepsis. The infection had statistical association with gestational age and with weight at birth. The gestational group < 34 weeks was more infected and in this group the number of newborn that died had association with infection. We did not observed association in the three groups studied between infection and sex. There were significant differences of levels of IgM between infected and not infected newborn infants in the same group of gestational age, this difference was more evident in the fifth day. There were association between levels of C-reactive protein > 10 mg/L and infection in the three groups studied. CONCLUSION: C-reactive protein was the better indicator of infection at birth and in the fifth day of life and this was very important for the clinical evolution of the infection and in the late sepsis was the first prove that was altered.

Indicadores imunológicos (IgM e proteína C-reativa) nas infecçöes neonatais / Immunological indicators (IgM and C-reactive protein) in neonatal infections

A sepse, no período neonatal, está associada com a presença de fatores de risco para infecçao e com o estado imunológico do recém-nascido. Objetivo. Verificar, em recém-nascidos com fatores de risco para infecçao, o papel da proteína C reativa (PCR) e da imunoglobulina M (IgM) como indicadores de infecçao. Casuística e Metodologia. Foram estudados 57 recém-nascidos que apresentavam, como fatores de risco para infecçao: ruptura prematura de membranas, associada ou nao a amniotite clínica ou a infecçao de trato urinário. Estes foram classificados em três grupos, de acordo com a idade gestacional <34 semanas, entre 34-36 6/7 semanas e (>37 semanas). O diagnóstico de infecçao foi baseado em critérios clínicos e laboratoriais, e foram incluídos entre os métodos de diagnóstico e dosagem de PCR e de IgM. Os exames laboratoriais foram colhidos ao nascimento e no quinto dia de vida. Resultados. Dos 57 recém-nascidos estudados, 18 (31,5 por cento) apresentaram sepse, sendo 13 (22,8 por cento) a forma precoce e cinco (8,7 por cento) a forma tardia. Houve associaçao estatisticamente significante entre idade gestacional, peso e presença de infecçao, constituindo o grupo com idade gestacional inferior a 34 semanas o mais acometido e o que apresentou também maior número de óbitos relacionados com o processo infeccioso. Nao se observou associaçao estatisticamente significante entre sexo e infecçao nos três grupos estudados. Em relaçao à IgM, houve diferença estatisticamente significante entre níveis séricos médios de IgM dos RNs infectados que se mostraram superiores aos dos nao-infectados nos três grupos de idade gestacional, tanto ao nascimento como no quinto dia, sendo esta diferença mais evidente no quinto dia. Constatou-se forte associaçao estatística entre níveis de PCR > 10mg/litro e presença de infecçao nos três grupos estudados. Conclusoes. Nesta casuística, a PCR foi o melhor indicador de infecçao, revelando-se esta prova confiável para seguimento clínico no quinto dia de vida, e naqueles casos que apresentaram infecçao tardia foi a primeira prova a se mostrar alterada.