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Objectives: Cystic Fibrosis is an autosomal recessive disease that effects the exocrine glands. These glands, when producing viscous secretions, cause manifestations, mainly respiratory and digestive. One of the studied effects related to the treatment of the disease is the use of aminoglycoside antibiotics and its action in the cells of the organ of the hearing, the cochlea. Aminoglycosides are known to be at risk for the development of sensorioneural hearing loss. The presence of adequate sound stimulation is essential for the maturation of auditory abilities. It is fundamental that the peripheral auditory system is intact, especially in childhood. If there is a reduction in environmental sound stimulation, there may be changes in the patterns of organization of hearing and learning abilities, contributing to language difficulties and changes in Central Auditory Processing. Based on the literature on the disease, no studies were found to evaluate an auditory extension of these patients, from peripheral to central structures, as well as their function and importance in hearing skills. The objective of this study was to analyze peripheral and central hearing of children and adolescents with cystic fibrosis. Methods: A total of 117 from 7 to 21 years old patients were evaluated, 57 of them with cystic fibrosis and 60 of the control group, using pure tone audiometry, high frequency audiometry, transient and product distortion otoacoustic emissions, behavioral evaluation of central auditory processing, brainstem evoked auditory potential and longlatency auditory evoked potential. Results: Children and adolescents with cystic fibrosis presented higher auditory thresholds than the control group in the frequencies of 250, 500, 1000, 2000, 3000, 4000, 6000, 8000, 9000, 10,000, 11,200, 12,500, 14,000 and 16,000 Hz, in addition to presenting reduced amplitudes of transient otoacoustic emissions and product distortion in relation to the control group. Children and adolescents with cystic fibrosis who received aminoglycosides intravenously had higher auditory thresholds in most of the assessed hearing frequencies and reduced amplitudes of product distortion otoacoustic emissions than those who did not use aminoglycosides intravenously. Children and adolescents with cystic fibrosis presented worse performance in the gaps-in-noise test compared to the control group in the evaluation of central auditory processing, which indicates impairment of temporal resolution auditory ability. There was no significant difference in the dichotic digit test, frequency pattern test and synthetic sentence identification test with competitive messages compared to the control group. They also showed increased latency in I and V waves of brainstem auditory evoked potential, as well as an increase in P300 latency in long-latency auditory evoked potential. Conclusions: Children and adolescents with cystic fibrosis presented normal results in the peripheral evaluation of hearing, but with a significant difference in relation to the control group. They presented indicative of impairment in the temporal auditory ability in the Central Auditory Processing and significant differences in the electrophysiological latencies in relation to the control group. Children and adolescents who used aminoglycosides intravenously had significantly worse outcomes in the evaluation of peripheral hearing than those who did not use these medications. [ABSTRACT FROM AUTHOR]

Background - Alpha-1-antitrypsin deficiency is a genetic disorder which is transmitted in a co-dominant, autosomal form. Alpha-1-antitrypsin deficiency affects mainly the lungs and the liver leading, in the latter case, to neonatal cholestasis, chronic hepatitis or cirrhosis. A precise diagnosis of Alpha-1-antitrypsin deficiency may be obtained by biochemical or molecular analysis. Objective - The purpose of this study was to use DNA analysis to examine the presence of an alpha-1-antitrypsin deficiency in 12 children suspected of having this deficiency and who showed laboratory and clinical characteristics of the disease. Patients and Methods - Twelve patients, aged 3 months to 19 years, who had serum alpha-1-antitrypsin levels lower than normal and/or had hepatic disease of undefined etiology were studied. The mutant alleles S and Z of the alpha-1-antitrypsin gene were investigated in the 12 children. Alpha-1-antitrypsin gene organization was analyzed by amplification of genoma through the polymerase chain reaction and digestion with the restriction enzymes Xmnl (S allele) and Taq 1 (Z allele). Results - Seven of the 12 patients had chronic liver disease of undefined etiology and the other five patients had low serum levels of alpha-1-antitrypsin as well as a diagnosis of neonatal cholestasis and/or chronic liver disease of undefined etiology. Five of the 12 patients were homozygous for the Z allele (ZZ) and two had the S allele with another allele (*S) different from Z. Conclusion - These results show that alpha-1-antitrypsin deficiency is relatively frequent in children with chronic hepatic disease of undefined etiology and/or low alpha-1-antitrypsin levels (41.6%). A correct diagnosis is important for effective clinical follow-up and for genetic counseling.

Reports on children presenting symptoms compatible with the chronic phase of Chagas disease are sporadic. We report a case of a 7-year-old boy who had megaesophagus and megacolon, both of them a consequence of the trypanosomiasis. The etiology was established by means of laboratory and histological features. Based on epidemiological data, the authors concluded that vertical transmission was the most probable route of acquisition. This diagnosis should be considered in children presenting similar complaints, even those living away from endemic areas.

A isoniazida e a pirazinamida são drogas hepatotóxicas bem conhecidas. O aparecimento da lesão hepática, em relação ao início do tratamento, é precoce com a isoniazida e mais tardio e mais grave com a pirazinamida. O objetivo deste trabalho é relatar caso de um lactente de cinco meses de idade com tuberculose pulmonar e meníngea, que desenvolveu hepatite tóxica com insuficiência hepática, durante o uso de isoniazida, pirazinamida e rifampicina. As manifestações clínicas e as alterações laboratoriais foram detectadas no quinto dia de tratamento e a melhora foi rápida, estando praticamente recuperado no final da primeira semana, após suspensão da isoniazida. Embora tenha tido necessidade de suporte em unidade de terapia intensiva, teve evolução favorável, sem seqüelas.

Abstract Background Biliary atresia (BA) is the most severe hepatic disorder in newborns and its etiopathogenesis remains unknown. Viral involvement has been proposed, including the human cytomegalovirus (HCMV). The aims of the study were to use the polymerase chain reaction (PCR) to screen the liver tissue of infants with extrahepatic cholestasis for HCMV and to correlate the results with serological antibodies against HCMV and histological findings. Methods A retrospective study in a tertiary care setting included 35 patients (31 BA, 1 BA associated with a choledochal cyst, 2 congenital stenosis of the distal common bile duct and 1 hepatic cyst). HCMV serology was determined by ELISA. Liver and porta hepatis were examined histologically. Liver samples from infants and a control group were screened for HCMV DNA. Results Twelve patients had HCMV negative serology, 9 were positive for IgG antibodies and 14 were positive for IgG and IgM. Nine liver and seven porta hepatis samples were positive for HCMV DNA but none of the control group were positive (general frequency of positivity was 34.3% – 12/35). There was no correlation between HCMV positivity by PCR and the histological findings. The accuracy of serology for detecting HCMV antibodies was low. Conclusion These results indicate an elevated frequency of HCMV in pediatric patients with extrahepatic neonatal cholestasis. They also show the low accuracy of serological tests for detecting active HCMV infection and the lack of correlation between HCMV positivity by PCR and the histopathological changes.

Morphological effects of diagnostic pulsed Doppler ultrasound on fetal tissues, particularly lung, in rat fetuses from 16 to 22 days gestation were investigated in this study. A clinical ultrasound machine with two types of focused transducers (3.5, 5 MHz) was used with an adjustment for a small experimental animal. Three levels of exposures were represented by a mechanical index (MI) of 0.5, 0.6 and 1.0. Subpleural uni- or multifocal hemorrhage was found in exposed fetal lung. Fetal lungs were microscopically investigated by sectioning through the whole fetal body, which facilitated the discovery of hemorrhage at other sites. The percentage of exposed fetuses with hemorrhage is significant. A threshold for fetal hemorrhage could not be determined, because a significant variation due to age within each exposure group affected the results. Fetuses with lung in the canalicular stage of development (18–19 days) showed the greatest degree of lung hemorrhage. Following laparotomy of the dam to achieve a precise and uniform exposure, a small number of fetuses within each exposure group were exposed directly. There was no higher degree of hemorrhage in these fetuses, than in others indirectly exposed through the dam's abdominal wall. [ABSTRACT FROM AUTHOR]