Cystic fibrosis and neonatal screening / Fibrose cística e a triagem neonatal

The clinical and diagnostic aspects of cystic fibrosis have been extensively reviewed, with an emphasis on neonatal screening. This systematic literature review involved a search for relevant contributions in the PubMed and SciELO databases. The first references to cystic fibrosis date to the Middle Ages. Cystic fibrosis is the most frequent autosomal recessive hereditary disease among Caucasians (1:2,000 to 3,500). More than 1,000 mutations lead to the disease, the most common being "F508, with 70 percent prevalence among Canadian, Northern European, and American Caucasians and 23 to 55 percent prevalence among Brazilians. The basic defect is in chloride ion secretion. Cystic fibrosis screening has long been controversial, and after almost three decades, there are few nationwide programs (most are regional or local). However, the U.S. Centers for Disease Control and Prevention (CDC) has concluded that screening for cystic fibrosis is justified. The lack of a specific screening test and the ethnic heterogeneity of the Brazilian population pose challenges for neonatal screening.

Aspectos clínicos e diagnósticos da fibrose cística são revistos de modo abrangente, com ênfase na triagem neonatal. Esta revisão sistematizada da literatura envolveu busca de contribuições relevantes nos bancos de dados PubMed e SciELO. Referências sobre fibrose cística existem desde a Idade Média. É a doença hereditária autossômica recessiva mais freqüente em caucasianos (1:2.000 a 3.500). Mais de mil mutações levam à doença, a mais comum: "F508 (prevalência: 70 por cento em caucasianos canadenses, americanos e norte-europeus; de 23 a 55 por cento em brasileiros). O defeito básico ocorre na secreção do íon cloro. Sua triagem é assunto polêmico e apesar de estar disponível há quase três décadas, por meio de diferentes protocolos, poucos programas de abrangência nacional existem. Entretanto, o Centers for Disease Control and Prevention, dos Estados Unidos, afirma que o rastreamento neonatal para fibrose cística é justificado. A falta de um teste específico e a heterogeneidade étnica da população brasileira dificultam sua triagem neonatal.

Programa de triagem neonatal para fibrose cística no estado do Paraná: avaliação após 30 meses de sua implantação / Neonatal cystic fibrosis screening program in the state of Paraná: evaluation 30 months after implementation

OBJETIVOS: Apresentar e analisar os resultados da implantação do Programa Nacional de Triagem Neonatal em Fibrose Cística, no Paraná, após 30 meses do seu início. MÉTODOS: Foi realizado um estudo descritivo com análise dos dados da triagem feita em aproximadamente 98 por cento dos recém-nascidos entre setembro de 2001 e abril de 2004 no laboratório do Serviço de Triagem Neonatal da Fundação Ecumênica de Proteção ao Excepcional do Paraná. As amostras de sangue para o "teste do pezinho" foram coletadas na alta hospitalar, idealmente entre o segundo e sexto dias de vida, com o envio dos papéis-filtro para a dosagem de tripsina imunorreativa por imunofluorimetria. Crianças com valores da dosagem de tripsina imunorreativa > 70 ng/ml em duas amostras distintas, nos primeiros 30 dias de vida, foram submetidas à determinação da condutividade do suor pelo método de Wescor. Com o resultado maior que 50 mMol/l procedeu-se à dosagem quantitativa de cloro e/ou sódio no suor (iontoforese por pilocarpina). RESULTADOS: De 456.982 exames realizados, 4.028 (0,9 por cento) crianças apresentaram a primeira dosagem de tripsina imunorreativa acima do ponto de corte estabelecido. Dessas, 478 (12,5 por cento) tiveram uma segunda amostra de sangue com dosagem de tripsina imunorreativa acima de 70 ng/ml, das quais, após a realização do teste de suor por condutividade, 56 (11,7 por cento) crianças foram encaminhadas para ambulatórios especializados com resultado acima de 50 mMol/l e 48 (0,01 por cento do total de triagens) tiveram o diagnóstico de fibrose cística confirmado. A incidência foi de 1:9.520 em nosso estado, embora algumas crianças ainda não tenham completado a investigação. CONCLUSÕES: A triagem neonatal para fibrose cística no estado do Paraná, de acordo com as normas do Ministério da Saúde, foi uma iniciativa pioneira no Brasil. Realizou-se o diagnóstico precocemente em muitos pacientes, mesmo os assintomáticos, fato que representa um desafio à melhora no prognóstico dessa doença fatal.

Acute poisoning by cholinesterase inhibitor insecticides: Effect on myocardial, hepatic and pancreatic functions in humans

The aim of the present work was to study patients with cholinesterase inhibitor insecticides intoxication as regards clinical manifestations, myocardial, hepatic and pancreatic affection with their laboratory investigations. The study was carried out on fifty consecutive patients with acute intoxication by ChEII admitted to Alexandria Poison Center and critical medicine department at Alexandria Main university hospital, Alexandria, Egypt. A control group of fifteen healthy subjects were randomly chosen. They were clinically free, not exposed to ChEII and of the same age group and sex as the patients. All patients were examined as regards; history and circumstantial evidence. Clinical examination and electrocardiogram [ECG] were done to all patients on admission. Also, laboratory investigation and determination of serum cholinesterase enzyme activity, serum glucose, trypsin, AST and ALT activity were carried out

Pancreatic insufficiency in giardiasis

To study pathological mucosal changes, gut bacteriological spectrum [bacterial overgrowth] and some pancreatic exocrine function in Giardiasis. 50 Patients having Giardia lamblia infection proved by stool examination beside, 20 healthy controls of matched age, sex and socioeconomic status. All patients and controls were subjected to thorough history and clinical examinations. Stool examination for diagnosis of giardia and study of fat contents, liver function tests, renal function tests, glucose tolerance curve, plain x-ray abdomen and abdominal ultrasonographly. Pancreatic function tests in the form of trypsin and amylase activities in duodenal aspirate, besides serum amylase and trypsin concentrations Upper GIT endoscopy for taking duodenal biopsy Also, parsitological and bacteriological examination for the duodenal aspirates. Both amylase and trypsin activities were lowered in patients than controls [t = 9.256] [t =7.284] and in patients with severe mucosal abnormalities than in patients with minor or no abnormalities [t = 7.462] and [t = 6.567] respectively. On the other hand, both serum amylase and trypsin concentrations showed significant elevation in patients than controls [t = 8.676] and [t= 7.827] and in patients with severe mucosal abnormalities than in patients with minor or no abnormalities [t =7.541] and [t = 7.623] respectively Giardia infection leads to a state of pancreatic exocrine insufficiency which resulted mainly from duodenal mucosal changes rather than bacterial overgrowth

New trypsin-releasable spasmogenic substances in the plasma of spontaneously hypertensive rats

We measured the levels of trypsin-releasable spasmogenic substances (TRSS) in the plasma of spontaneously hypertensive rats (SHR) during the development of hypertension. TRSS levels (x ñ SEM, N = 4) were significantly higher at 12 weeks (7.13 ñ 1.05 microng bradykinin equivalents (BKE)/ml plasma) and 24 weeks (6.87 ñ 0.60 microng BKE/ml) compared to 8 weeks (3.3 ñ 0.55 microng BKE/ml) and to normotensive Wistar Kyoto (WKN) rats, whose levels were 3.74 ñ 0.74 microng BKE/ml at 24 weeks and did not change significantly during the period studied. The mean arterial pressure (MAP) of SHR was 150-170, 160-180 and 170-220 mmHg at 8, 12 and 24 weeks, respectively, whereas the WKN MAP was 110-120 mmHg at 24 weeks. The increase in total TRSS was due to substances which elicit the slow contraction of the isolated guinea pig ileum and which could be distinguished from BK, T-kinin and other BK homologues by gel filtration on Sephadex G-25, gradient elution chromatography on CM-cellulose and by the slow rate of contraction of the guinea pig ileum. All of these properties are the same as those we have previously demonstrated for TRSS of Goldblatt 1-kidney 1-clip renal hypertensive rats and which are due, at least in part, to a 14 amino acid peptide whose composition does not correpond to any known spasmogenic substance

Partial and selective exocrine pancreatic deficiency in the old

This is the first study on pancreatic exocrine functions in the stressing the value of studying function disturbances rather than morphological and pathological changes. Twenty three old males with ages ranging between 60 and 72 years are included. The intravenous secretin test was chosen because of its accuracy and the availability of normal figures for comparison. The results show a redaction in the mean volume and a selective enzymatic reduction for amylase and trypsin activities. The mean lipase activity was normal. This reduction in volume, amylase and tryptic activity can be attributed to the ageing process itself, the high incidence of chronic fibrosing pancreatitis in the old, and a possible impairment of blood supply. Supplementary pancreatic enzyme therapy may be needed for some of these old individuals to prevent clinical or sub-clinical pancreatic deficiency. Twenty three aged males ranging between 60 and 72 years were subjected to a study of their exocrine pancreatic functions. The intravenous secretin test was chosen for obvious reasons. The results show a reduction of the mean volume' to one third the normal mean for young adults, a selective enzyme reduction in amylase and trypsin activities to two thirds of the normal. The mean lipase activity was normal. This reduced volume and enzymatic production could be attributed to the ageing process itself and the high incidence of chronic fibrosing pancreatitis favoured by a greater incidence of gall stones. A possible impairement of the vascular supply to the pancreas is intertained. These factors may play singly or in combination. Therapeutic supplimentation of pancreatic enzymes in the old is indicated to prevent clinical and sub-clinical deficiency manifestations, which may have a great bearing on the health and well being of the aged