Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0027947 (neutropenia)
 17,527 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

C-reactive protein, measured in serum from 38 patients with leukaemia, was elevated to at least 100 mg/l at the beginning of 32 of 34 episodes of infection, and subsequently rose above 100 mg/l in all 34. Uninfected patients, whether in leukaemic remission or relapse and whether pyrexial or not, always had levels below 100 mg/l, with four exceptions out of 290 measurements. Estimation of two other acute-phase proteins, alpha 1-antitrypsin and orosomucoid, was not of additional diagnostic value. Serial measurement of C-reactive protein may be important for the early detection of infection in the leukaemic patient with neutropenia.
 ...
PMID:C-reactive protein for rapid diagnosis of infection in leukaemia. 31 82

Tumor necrosis factor (TNF) has been implicated as a proximal mediator of the septic syndrome. To evaluate the possible role of TNF in leukocyte activation in septicemia, we performed a cross-over saline-controlled study in six healthy men who were intravenously injected with recombinant human TNF (50 micrograms/m2), and analyzed changes in circulating white blood cells and parameters for neutrophil and monocyte activation. TNF elicited a very rapid neutropenia, reaching a nadir after 15 minutes, followed by a neutrophilia. Lymphocytes showed a sustained decrease, whereas monocytes declined transiently. TNF injection was also associated with neutrophil activation, as reflected by a mean fivefold increase in the plasma concentrations of elastase-alpha 1-antitrypsin complexes and a mean sevenfold increase in plasma lactoferrin levels. Serum neopterin, a marker of monocyte activation, was significantly increased 24 hours after the administration of TNF. These changes occurred in the absence of detectable complement activation, as indicated by unchanged C3a-desarg plasma values. Serum interleukin-6 showed a nearly 40-fold increase after TNF injection, whereas interleukin-1 remained undetectable throughout. We conclude that the systemic release of TNF, triggered early after invasive infection, may be involved in the alterations in circulating leukocyte numbers and in the activation of leukocytes, during the development of the septic syndrome.
 ...
PMID:Effects on leukocytes after injection of tumor necrosis factor into healthy humans. 173 11

Urinary desmosine excretion (a quantitative measure of endogenous elastin breakdown) was monitored in 2 patients with cyclic neutropenia. In the first one, measurements were carried out over 2 complete 25-day cycles (nonconsecutive), whereas in the second, measurements were limited to selected urine specimens obtained on days when circulating neutrophils were at undetectable levels. Desmosine excretion remained in the normal range in both patients during neutropenic episodes, suggesting that endogenous elastin breakdown was not dependent on neutrophil-mediated elastinolysis. Thus, in alpha 1-antitrypsin-sufficient subjects, any lung elastin turnover caused by neutrophils is probably intermittent and limited to times and foci marked by acute inflammatory changes in the lung.
 ...
PMID:Do neutrophils play a major role in elastin turnover of normal tissues? 685 61

Alpha-1 antitrypsin deficiency is an autosomal, codominant disorder caused by mutations of the SERPINA1 gene. This genetic disorder is mainly associated with development of pulmonary emphysema and/or chronic liver disease and cirrhosis. Here we report a very rare alpha-1 antitrypsin Null Q0cairo homozygous mutation characterized by a complete absence of alpha-1 antitrypsin in the plasma, in a non-consanguineous Moroccan family. This mutation has been previously described in heterozygosis in only three cases worldwide: an Italian/Egyptian family and two Italian families (Zorzetto et al., 2005). The main clinical features in two members of this Moroccan family were the severity and precocity of bronchiectasis, quickly spreading and seriously limiting respiratory function and physical activity by the second decade of age. Moreover, the index case presented with many episodes of pulmonary infections concomitant with severe neutropenia. The third member of the family presented with ankylosing spondyloarthritis and developed panniculitis later but had no respiratory symptoms. The presence of this alpha-1-antitrypsin Q0cairo homozygous mutation could explain the severity of clinical manifestations. Moreover, our observations highlight a great variability of clinical expression for the same mutation: early severe bronchiectasis, panniculitis, rheumatologic manifestations. This study further underlines the importance of genotyping by whole SERPINA1 gene sequencing in addition to serum alpha-1 antitrypsin determination, to enable detection of alpha-1 antitrypsin deficiency due to rare genotypes.
 ...
PMID:Alpha1 antitrypsin deficiency due to an homozygous PI* Null Q0Cairo mutation: Early onset of pulmonary manifestations and variability of clinical expression. 2997 61