Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0008370 (cholestasis)
 9,378 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Early detection of hepatopulmonary syndrome (HPS) may be delayed because of invasiveness of the diagnostic procedures. In this pilot study, we prospectively investigated the usefulness of determining transcutaneous O(2) tension after 100% O(2) (TcPO(2)100) breathing using a transcutaneous hyperoxia test (THT) in 11 children with chronic cholestasis and without primary cardiopulmonary disease. These patients also underwent alveolar-arterial O(2) gradient testing (AaDO(2)) at an inspired oxygen fraction (FiO(2)) of 0.21, lung scintiscan, and contrast transthoracic echocardiography (TTE). Three of them had a liver transplantation because of the downhill course of their liver disease and respiratory status. THT transcutaneous O(2) tension at 21% FiO(2) (TcPO(2)21) was 75 +/- 13 mm Hg, and increased to 488 +/- 106 mmHg after 100% O(2) breathing (TcPO(2)100). Both mean values were not significantly different from those found in 8 age-matched controls (P = 0.9 and P = 0.5, respectively). However, one patient, in spite of her stable liver function, showed an abnormal TcPO(2)21 and TcPO(2)100 (45 mmHg and 210 mmHg, respectively). This same subject was also the only patient with abnormalities of AaDO(2) (54.2 mm Hg; normal value, < 20 mm Hg), lung scintiscan (brain/lung ratio of technetium-99 fixation (B/L SI) = 9, normal value < 1), and TTE, suggesting intrapulmonary vasodilatations and shunts. Given the clinical development of cyanosis and platypnea, all criteria for HPS were fulfilled, and timing of her liver transplantation was therefore accelerated. This resulted in HPS regression. In children with chronic cholestasis, repeated transcutaneous bedside measurements are a rapid and reliable noninvasive test for characterizing the severity of abnormal oxygenation, and may prove useful also in liver posttransplantation monitoring.
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PMID:Noninvasive investigation of hepatopulmonary syndrome in children and adolescents with chronic cholestasis. 1194 83

Neonatal diabetes mellitus (NDM) is defined as hyperglycemia occurring in the first few weeks of life. It can be either transient (TNDM) or permanent (PNDM). A 25 days old newborn was brought to the hospital with restlessness, respiratory depression and cyanosis. He was born at term with a birth weight of 2,000 g. There was no consanguinity between his parents. His physical examination findings were as follows: Weight and height were under 3th percentile, he was hypoactive and dehydrated. Serum glucose level was 800 mg/dl; C-peptide was 0.41 ng/ml. Upon investigation for dyslipidemia in association with his neonatal diabetes, hyperchylomicronemia was found both in the patient and his father. Pancreatitis, anemia and cholestasis were also observed. Insulin treatment was started for his diabetes together with a special diet for dyslipidemia. At the end of 28 months of follow-up, dyslipidemia has resolved but the need for insulin therapy was still existing. However, TNDM was considered in differential diagnosis because he was small for gestational age (SGA) at birth and his symptoms had started at the 25th day of the neonatal period. Delayed recovery from insulin dependency brought out the possibility of PNDM. Furthermore, neonatal diabetes combined with hypechylomicronemia is a rare clinical picture. Reported cases of NDM with different clinical evaluation will help to better understanding of this disorder.
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PMID:Neonatal diabetes with hyperchylomicronemia. 1255 65