Adenosine deaminase (ADA), an enzyme essential for the differentiation of lymphoid cells, has been used for monitoring diseases with altered immunity. The purpose of this study was to investigate the changes in serum ADA activity throughout normal pregnancy. We measured the catalytic values of serum ADA from 202 normal pregnant women using a commercial kit. Subjects were divided into four groups according to the gestational age in weeks (Gwks) (Group I: 5-9 Gwks [n=58]; Group II: 15-20 Gwks [n= 63]; Group III: 24-30 Gwks [n=34]; Group IV: 30-39 Gwks [n=47]). The serum ADA levels for the Groups I, II, III, and IV were as follows: 20.1+/-6.9 IU/L, 20.0+/-7.6 IU/L, 37.9+/-19.9 IU/L, and 24.5+/-8.6 IU/L, respectively. The serum ADA activity of group III was significantly higher than the other groups (p<0.05). However, there was no significant correlation between the Gwks and the serum ADA activity. Furthermore, other parameters, such as maternal age (p=0.29), gestational age at delivery (p=0.07), delivery mode (p=0.39), and birth weight (p=0.59) had no correlation with ADA activity. Reference values of serum ADA in normal pregnancy may provide important database for making clinical decisions in pregnancies complicated by conditions where cellular immunity has been altered.
Adenosine/metabolism ; Adenosine Deaminase/*blood/*metabolism ; Adult ; Analysis of Variance ; Birth Weight ; Female ; Gestational Age ; Humans ; Infant, Newborn ; Inosine/metabolism ; Logistic Models ; Maternal Age ; Pregnancy ; Substrate Specificity

Adenosine Deaminase ; metabolism ; Adult ; Aged ; Female ; Humans ; Interferon-gamma ; analysis ; Interleukin-12 ; analysis ; Isoenzymes ; metabolism ; Male ; Middle Aged ; Pleural Effusion ; chemistry ; Tuberculosis, Pleural ; diagnosis ; metabolism

OBJECTIVETo detect mutation of ADAR1 gene in a family affected with dyschromatosis symmetrica hereditaria.

METHODSClinical data and blood samples of the family were collected. Potential mutation of the ADAR1 gene were scanned in 3 patients and 3 unaffected members by PCR amplification and direct sequencing. The coding sequences of the ADAR1 were also screened in 50 normal controls.

RESULTSA frameshift mutation (c.2252insG) of the ADAR1 gene was identified in all of the 3 patients. The same mutation was not found in the 3 unaffected members and 50 normal cases.

CONCLUSIONThe frameshift mutation of ADAR1 gene (c.2252insG) is probably responsible for the disease in this family.

Adenosine Deaminase ; genetics ; Adult ; Base Sequence ; Child ; China ; DNA Mutational Analysis ; Exons ; Female ; Frameshift Mutation ; Humans ; Male ; Molecular Sequence Data ; Pedigree ; Pigmentation Disorders ; congenital ; enzymology ; genetics ; Point Mutation ; RNA-Binding Proteins ; genetics

OBJECTIVETo analyse the mutation of ADAR gene in a pedigree with dyschromatosis symmetrical hereditaria (DSH).

METHODSA pedigree of DSH was investigated. Mutation scanning was carried out by PCR and direct sequencing. ADAR gene of 50 normal people was also sequenced as control. Through CBMdisc and PubMed, the mutations of ADAR gene were summarized.

RESULTSA novel mutation of c.2447G > A was found in all patients with DSH, but was not found in normal individuals in this DSH family and 50 unrelated controls. There were 64 mutations in ADAR gene.

CONCLUSIONA deletion mutation (c.2447G > A) in the ADAR gene has been detected in this DSH family, which is probably one of the molecular bases of the pathogenesis of the disease. Author have summarized a total of 64 mutations in the ADAR gene by previous reports and speculate that the mutation hotspots of ADAR gene might be located in the tRNA-specific and double-stranded RNA adenosine deaminase (ADEAMc) domain.

Adenosine Deaminase ; genetics ; Adult ; Base Sequence ; DNA Mutational Analysis ; Female ; Genetic Predisposition to Disease ; genetics ; Humans ; Male ; Mutation ; Pedigree ; Pigmentation Disorders ; genetics ; Polymerase Chain Reaction ; RNA-Binding Proteins ; Skin Diseases, Genetic ; genetics

BACKGROUND/AIMS: Liver cirrhosis and malignant tumors are two major causes of ascites according to the reports from Western countries, 80% and 10% respectively. Assuming that there might be regional differences in etiologies and changes in their frequency over time, we investigated causes of ascites and the diagnostic usefulness of various laboratory tests. METHODS: Medical records of 366 patients, who underwent diagnostic paracentesis in the mid-1990s (1996 and 1997) and early 2000s (2001 and 2002), were retrospectively reviewed. The etiology was confirmed by histology, imaging studies, and ascites analyses. RESULTS: The frequency of cirrhotic ascites was 59.6%, cancer-related 25.7%, tuberculous peritonitis 6.6%, and others 8.1%. Among cirrhotics, the frequency of cases related to hepatitis B decreased significantly from 72% to 55% over time, and alcoholic cirrhosis increased from 18% to 34%. Among cancer-related ascites, peritoneal carcinomatosis type was 75.5% (primary sites: stomach 24.5%, pancreas 15.9%, colon 15.9%, lung 7.4%, etc), metastatic liver cancers 8.5%, hepatocellular carcinoma without cirrhosis 6.4%, etc. The sensitivity of serum-ascites albumin gradient for the diagnosis of cirrhotic ascites was 91.4%, and total protein in ascites also revealed a comparable diagnostic sensitivity, 90%. The diagnostic sensitivity of adenosine deaminase for tuberculous peritonitis was 94.2%, and its positive predictive value was 75%. CONCLUSIONS: Liver cirrhosis is the leading cause of ascites, especially alcoholic cirrhosis has significantly increased. The next common etiology is cancer-related, and its frequency in Korea is higher than in western countries. Tuberculous peritonitis is still prevalent, and adenosine deaminase could precisely differentiate it from other causes.
Adenosine Deaminase/analysis ; Adult ; Aged ; Ascitic Fluid/chemistry/pathology ; Female ; Humans ; Liver Cirrhosis/*diagnosis/epidemiology/etiology ; Liver Cirrhosis, Alcoholic/*diagnosis/epidemiology ; Male ; Middle Aged ; Neoplasms/*diagnosis/epidemiology/etiology ; *Paracentesis ; Peritonitis, Tuberculous/*diagnosis/epidemiology ; Predictive Value of Tests ; Prevalence ; Retrospective Studies

BACKGROUND: Interferon-gamma (IFN-gamma) plays a crucial role in Mycobacterium tuberculosis induced pleural responses. Interleukin (IL)-33 up-regulates the production of IFN-gamma. We aimed to identify whether an association between pleural IL-33 levels and tuberculous pleurisy exists and determine its diagnostic value. METHODS: Pleural IL-33, ST2 (a receptor of IL-33), adenosine deaminase (ADA), and IFN-gamma, as well as serum IL-33 and ST2 were measured in 220 patients with pleural effusions (PEs). Patients with malignant (MPEs), parapneumonic (PPEs), tuberculous (TPEs), and cardiogenic (CPEs) pleural effusions were included. RESULTS: Pleural and serum IL-33 levels were highest or tended to be higher in patients with TPEs than in those with other types of PEs. The median pleural fluid-to-serum IL-33 ratio was higher in TPE cases (> or = 0.91) than in other PE cases (< or = 0.56). Pleural IL-33 levels correlated with those of pleural ADA and IFN-gamma. However, the diagnostic accuracies of pleural IL-33 (0.74) and pleural fluid-to-serum IL-33 ratio (0.75) were lower than that of ADA (0.95) or IFN-gamma (0.97). Pleural ST2 levels in patients with MPEs were higher than in patients with TPEs. Serum ST2 levels did not differ among the groups. CONCLUSIONS: We identified an association between elevated pleural IL-33 levels and tuberculous pleurisy. However, we recommend conventional pleural markers (ADA or IFN-gamma) as diagnostic markers of TPE.
Adenosine Deaminase/analysis ; Adult ; Aged ; Aged, 80 and over ; Area Under Curve ; Case-Control Studies ; Cross-Sectional Studies ; Female ; Humans ; Interferon-gamma/analysis ; Interleukins/*analysis/blood ; Male ; Middle Aged ; Pleural Cavity/*metabolism ; Pleural Effusion/diagnosis/metabolism ; Pleural Effusion, Malignant/diagnosis/metabolism ; ROC Curve ; Receptors, Cell Surface/analysis/blood ; Tuberculosis, Pleural/*diagnosis/metabolism