Hepatopulmonary syndrome (HPS) is the clinical relationship between hepatic disease and the existence of pulmonary vascular dilatations, which can result in a range of arterial oxygenation abnormalities. It is probably caused by an alteration in the synthesis or metabolism of vasoactive pulmonary substances at a hepatic level, leading to vasodilatation of pulmonary vessels and diffusion perfusion defects. The Abernethy malformation is characterized by the congenital diversion of portal blood away from the liver, by either end-to-side or side-to-side shunt. Here, we report on a 5-year-and-11-month-old-boy who had started cyanosis at age 4 years and 11 months, and did not have any other pulmonary or cardiac signs or symptoms. In the investigation, arterial blood gases revealed a PaO(2) of 41.4 mm Hg. The chest x-ray film and echo Doppler cardiography were normal. Nuclear scanning with Technetium 99m-labeled macroaggregated albumin showed the presence of arteriovenous shunt, at 47%. Abdominal echography revealed Abernethy malformation with an absence of portal vein. We concluded that the patient had HPS caused by Abernethy malformation. The possible mechanism is that in this malformation, there is a deviation in the blood that comes from the spleen to the vena cava without passing through the liver, so there is no metabolism of some substances which can be responsible for the imbalance between the vasodilatation and the vasoconstriction of the pulmonary circulation. Abernethy malformation must be included as one of the etiologies of hepatopulmonary syndrome. This is the first case described in the literature with this form of presentation.

the severity of AVB by RSV is a phenomenon that depends on the varying degrees of interaction among epidemiological, environmental, and genetic variables.

Objective: To identify the clinical, laboratory and radiographic characteristics of the cystic fibrosis patients under care at Universidade Estadual de Campinas (UNICAMP) in the last decade of the twentieth century, and to investigate the association of these characteristics with genotype and severity of the disease as measured by the Shwachman score.Methods: Descriptive, retrospective and cross-sectional study of the patients assisted at UNICAMP hospitals Cystic Fibrosis Clinic from July 1990 to July 2000. Results:One hundred and four patients were studied; 53.8% male; 93.3% Caucasian; 89.4% presented with respiratory symptoms; 59.6% presented with digestive symptoms; 5.8% had meconium ileus; 4.8% had diabetes. The mean age at onset of symptoms was 3 months, and the mean age at diagnosis was 2 years and 4 months. At diagnosis, 69.9 and 56.6% of the patients had weight and height below 10 th percentile, respectively; in 10.6%, sweat chloride was < 60 mEq/l. Staphylococcus aureus was found in 80.2%, Pseudomonas aeruginosa in 76.0%, and Burkholderia cepacia in 5.2%. ∆F508 homozygosis was observed in 18.75%, whereas 62.50% of the patients were ∆F508 heterozygous. A moderate/severe Shwachman score was found in 15.7%. Eighteen patients died in that period (17.3%). The mean age at death was 7 years and 8 months; median survival after diagnosis was 18 years and 4 months. Patients who have at least one ∆F508 mutation have more frequent alterations in fecal fat levels when compared to patients who do not have this mutation (p < 0.05). There were no differences in any parameter between ∆F508 homozygous and heterozygous patients. Conclusions:The clinical and laboratory characteristics of the 104 patients studied were similar to the characteristics described for patients in other countries. Exceptions are the higher age at diagnosis and lower survival. Our results support the recommendation for early diagnosis and the need for more treatment opportunities in the population of cystic fibrosis patients. ResumoObjetivo: Estudar as características clínicas, laboratoriais e radiográficas de pacientes fibrocísticos acompanhados na última década do século 20 na UNICAMP e verificar se existe associação com o genótipo e a gravidade da doença medida pelo escore de Shwachman.Métodos: Estudo descritivo, retrospectivo e de corte transversal dos pacientes fibrocísticos acompanhados na UNICAMP, que tiveram atendimento entre julho de 1990 e julho de 2000.Resultados: Foram estudados 104 pacientes: sexo masculino -53,8%; raça caucasóide -93,3%; comprometimento pulmonar -89,4%, comprometimento digestivo -59,6%; íleo meconial -5,8%; diabetes melito -4,8%; mediana da idade de início dos sintomas -3 meses; mediana da idade no diagnóstico -2 anos e 4 meses; 69,9 e 56,6% apresentavam peso e estatura abaixo do percentil 10, respectivamente, na época do diagnóstico; dosagem de cloro no suor < 60 mEq/l -10,6%; colonização: S. aureus -80,2%, P. aeruginosa -76,0%, B. cepacia -5,2%; ∆F508 homozigoto -18,75%, ∆F508heterozigoto -62,5%; escore de ...

Long-term home oxygen therapy is increasingly common in pediatrics and has many indications. There are relevant particularities when compared to its use in adults, regarding indications, directions for use, and monitoring.

Our findings provide some evidence that SNPs in CCL5 and NOS2 are associated with presence of bronchiolitis and SNPs in TLR4, TLR2, TLR9, VDR and CCL5 are associated with severity of bronchiolitis.

Objective: To identify the clinical, laboratory and radiographic characteristics of the cystic fibrosis patients under care at Universidade Estadual de Campinas (UNICAMP) in the last decade of the twentieth century, and to investigate the association of these characteristics with genotype and severity of the disease as measured by the Shwachman score.Methods: Descriptive, retrospective and cross-sectional study of the patients assisted at UNICAMP hospitals Cystic Fibrosis Clinic from July 1990 to July 2000. Results:One hundred and four patients were studied; 53.8% male; 93.3% Caucasian; 89.4% presented with respiratory symptoms; 59.6% presented with digestive symptoms; 5.8% had meconium ileus; 4.8% had diabetes. The mean age at onset of symptoms was 3 months, and the mean age at diagnosis was 2 years and 4 months. At diagnosis, 69.9 and 56.6% of the patients had weight and height below 10 th percentile, respectively; in 10.6%, sweat chloride was < 60 mEq/l. Staphylococcus aureus was found in 80.2%, Pseudomonas aeruginosa in 76.0%, and Burkholderia cepacia in 5.2%. ∆F508 homozygosis was observed in 18.75%, whereas 62.50% of the patients were ∆F508 heterozygous. A moderate/severe Shwachman score was found in 15.7%. Eighteen patients died in that period (17.3%). The mean age at death was 7 years and 8 months; median survival after diagnosis was 18 years and 4 months. Patients who have at least one ∆F508 mutation have more frequent alterations in fecal fat levels when compared to patients who do not have this mutation (p < 0.05). There were no differences in any parameter between ∆F508 homozygous and heterozygous patients. Conclusions:The clinical and laboratory characteristics of the 104 patients studied were similar to the characteristics described for patients in other countries. Exceptions are the higher age at diagnosis and lower survival. Our results support the recommendation for early diagnosis and the need for more treatment opportunities in the population of cystic fibrosis patients.J Pediatr (Rio J). 2004;80(5):371-9: Cystic fibrosis, ∆F508, genotype/phenotype relation, Pseudomonas aeruginosa, Burkholderia cepacia, Shwachman score, pediatric lung disease.

No abstract

Objective: To identify the clinical, laboratory and radiographic characteristics of the cystic fibrosis patients under care at Universidade Estadual de Campinas (UNICAMP) in the last decade of the twentieth century, and to investigate the association of these characteristics with genotype and severity of the disease as measured by the Shwachman score.Methods: Descriptive, retrospective and cross-sectional study of the patients assisted at UNICAMP hospitals Cystic Fibrosis Clinic from July 1990 to July 2000. Results:One hundred and four patients were studied; 53.8% male; 93.3% Caucasian; 89.4% presented with respiratory symptoms; 59.6% presented with digestive symptoms; 5.8% had meconium ileus; 4.8% had diabetes. The mean age at onset of symptoms was 3 months, and the mean age at diagnosis was 2 years and 4 months. At diagnosis, 69.9 and 56.6% of the patients had weight and height below 10 th percentile, respectively; in 10.6%, sweat chloride was < 60 mEq/l. Staphylococcus aureus was found in 80.2%, Pseudomonas aeruginosa in 76.0%, and Burkholderia cepacia in 5.2%. ∆F508 homozygosis was observed in 18.75%, whereas 62.50% of the patients were ∆F508 heterozygous. A moderate/severe Shwachman score was found in 15.7%. Eighteen patients died in that period (17.3%). The mean age at death was 7 years and 8 months; median survival after diagnosis was 18 years and 4 months. Patients who have at least one ∆F508 mutation have more frequent alterations in fecal fat levels when compared to patients who do not have this mutation (p < 0.05). There were no differences in any parameter between ∆F508 homozygous and heterozygous patients. Conclusions:The clinical and laboratory characteristics of the 104 patients studied were similar to the characteristics described for patients in other countries. Exceptions are the higher age at diagnosis and lower survival. Our results support the recommendation for early diagnosis and the need for more treatment opportunities in the population of cystic fibrosis patients. ResumoObjetivo: Estudar as características clínicas, laboratoriais e radiográficas de pacientes fibrocísticos acompanhados na última década do século 20 na UNICAMP e verificar se existe associação com o genótipo e a gravidade da doença medida pelo escore de Shwachman.Métodos: Estudo descritivo, retrospectivo e de corte transversal dos pacientes fibrocísticos acompanhados na UNICAMP, que tiveram atendimento entre julho de 1990 e julho de 2000.Resultados: Foram estudados 104 pacientes: sexo masculino -53,8%; raça caucasóide -93,3%; comprometimento pulmonar -89,4%, comprometimento digestivo -59,6%; íleo meconial -5,8%; diabetes melito -4,8%; mediana da idade de início dos sintomas -3 meses; mediana da idade no diagnóstico -2 anos e 4 meses; 69,9 e 56,6% apresentavam peso e estatura abaixo do percentil 10, respectivamente, na época do diagnóstico; dosagem de cloro no suor < 60 mEq/l -10,6%; colonização: S. aureus -80,2%, P. aeruginosa -76,0%, B. cepacia -5,2%; ∆F508 homozigoto -18,75%, ∆F508heterozigoto -62,5%; escore de ...