Showing papers in "Disease Markers in 1993"
TL;DR: The results indicate firstly that p53 mutations are not generally involved in the tumour types studied and secondly the data emphasize the disparity encountered when attempting to correlate p53 immunohistochemical positivity with mutations within the p53 gene.
Abstract: The expression of the tumour suppressor gene p53 was analyzed in a variety of human solid tumours by immunohistochemistry and direct DNA sequencing. Positive nuclear staining using a panel of anti-p53 antibodies was used to select tumours for further genetic analysis. Using PCR amplification followed by immobilization onto magnetic beads and direct sequencing, we sequenced exons 5-9 of the p53 gene from 9 melanomas, 8 nasopharyngeal carcinomas, 16 sporadic breast carcinomas and 11 patients from familial breast cancer families. No sequence alterations of the p53 gene were detected in either the melanoma or nasopharyngeal tumours and only 19% of the primary breast carcinomas showed a variant band indicative of a mutation. Our results indicate firstly that p53 mutations are not generally involved in the tumour types studied and secondly the data emphasize the disparity encountered when attempting to correlate p53 immunohistochemical positivity with mutations within the p53 gene.
51 citations
34 citations
TL;DR: This study characterizes the HLA class I and class II antigens in a group of patients with vitiligo and a control group, both of Dutch descent and found that only Cw7 and DR6 were significantly associated with Vitiligo.
Abstract: This study chanlcterizes the HLA class I and class II antigens in a group of patients with vitiligo and a control group, both of Dutch descent. Earlier reports had shown a significant positive association with DR4 and a significant negative association with DR3. We found that, after correction for the broad antigens studied, only Cw7 and DR6 were significantly associated with vitiligo. The significant positive association of DR6 with vitiligo is interesting since vitiligo has an autoimmune component in its pathogenesis and DR6 may be a marker for high immune responsiveness.
33 citations
TL;DR: Major advances have been made in the methods based on immunological techniques to improve the detection and estimation of infarcts, including planar radioisotope imaging, single photon emission computed tomography, positron emission tomography and NMR imaging have been employed to substantiate diagnosis in patients showing ambiguous symptoms and ECG findings.
Abstract: Ischaemic heart disease represents the most common of the serious health problems in contemporary society and acute myocardial infarction (AMI) is the major cause of cardiovascular morbidity and death. The accurate determination of infarct size and the volume of myocardium at risk at the time of initial insult is important in the choice of treatment; however, it is probable that it is the ultimate infarct area which determines the longer term outcome. Myocardial ischaemia first appears in the sub-endocardial region . Initially, the ischaemic cells are reversibly injured and if these initial changes are not promptly reversed, it will result in the death of the myocytes. Thereafter, irreversible myocyte necrosis travels transmurally towards the epicardium in the form of a wave-front (Alpert, 1989). Progress in the field of thrombolytic therapy has significantly affected the management of patients with AMI (Verstraete, 1992), A timely and successful reperfusion during an evolving infarction often prevents immediate mortality, reduces the risk of infarct and thus preserves the left ventricular function, The familiar triad, clinical history, ECG and serum enzyme analysis, is still of utmost significance in the diagnosis of myocardial infaction (Willerson, 1989). However, none of these criteria reveal quantitative and precise information regarding the extent and location of the infarct. Efforts to relate infarct size to serum level changes of the marker substances released in blood from necrosing myocytes, have met with little success, In addition, a number of specialist techniques such as planar radioisotope imaging, single photon emission computed tomography (SPECT), positron emission tomography (PET), echocardiography, ventriculography and NMR imaging have been employed to substantiate diagnosis in patients showing ambiguous symptoms and ECG findings. However, most of these procedures are not available to patients due to their very high costs. In recent years, major advances have been made in the methods based on immunological techniques to improve the detection and estimation of infarcts, These
30 citations
TL;DR: Patients with non-malignant diseases and increased CA 19-9 levels showed liver cirrhosis, cholecystitis, pancreatitis and/or hepatitis, and in 8.8% no explanation was found for the extremely high level.
Abstract: CA 19-9 is used as a tumour marker of the upper gastrointestinal tract. However, extremely elevated CA 19-9 levels are found also in patients with benign diseases. Cholestasis was present in 97.1% of patients with high elevated CA 19-9, independent of their primary disease. 50% of patients with non-malignant diseases and increased CA 19-9 levels showed liver cirrhosis, cholecystitis, pancreatitis and/or hepatitis. In 8.8% no explanation was found for the extremely high CA 19-9 level. The results provide evidence of different factors influencing the CA 19-9 level.
29 citations
TL;DR: Possible restriction fragment length polymorphisms of this locus in patients with insulin-dependent diabetes mellitus (IDDM) and control individuals were studied and no significant association of any particular RFLP pattern with IDDM was found.
Abstract: Interleukin I (lL-I) is selectively cytotoxic to the insulin producing beta cell of pancreatic islets. This effect may be due to IL-I induced generation of reactive oxygen species and nitric oxide. Since beta cells contain low amounts of the superoxide radical scavenger enzyme manganese superoxide dismutase (MnSOD), this may leave beta cells more susceptible to IL-I than other cell types. Genetic variation in the MnSOD locus could reflect differences in scavenger potential. We, therefore, studied possible restriction fragment length polymorphisms (RFLPs) of this locus in patients with insulin-dependent diabetes mellitus (100M) (n= 154) and control individuals (n=178), Taql revealed a double diallelic RFLP in patients as well as in controls. No overall difference in allelic or genotype frequencies were observed between 100M patients and control individuals (p=0.11) and no significant association of any particular RFLP pattern with 100M was found. Structurally polymorphic MnSOD protein variants with altered activities have been reported. If genetic variation results in MnSOD variants with reduced activities, the MnSOD locus may still be a candidate gene for 100M susceptibility. Whether the RFLPs reported in this study reflects differences in gene expression level, protein level and/or specific activity of the protein is yet to be studied.
27 citations
18 citations
TL;DR: In the Sardinian AS patients a significant increase of the A2, Cw2, B27, DR2, DQ1 haplotype was found, and preliminary data seem to show that this haplotype bears the S31 complotype and the DRB1*1601 allele both in the AS patients and in the healthy controls.
Abstract: With the aim of searching for HLA haplotypes and non-B27 allele frequency variations in Sardinian AS patients, HLA-A, B, Cw, DR, DQ and Bf, C4A and C4B typing and haplotype assignment was carried out in the families of 25 AS patients and in 44 healthy individuals, all B27 heterozygotes. In the AS patients a significant increase of the A2, Cw2, B27, DR2, DQ1 haplotype was found. This depends only partially on the linkage disequilibrium existing in the Sardinian population between B27 and the other alleles of this haplotype, and rather seems to be due to a primary association of Cw2 and DR2 alleles with AS. Preliminary data seem to show that this haplotype bears the S31 complotype and the DRB1*1601 allele both in the AS patients and in the healthy controls. The pathogenetic implications of these findings are discussed.
15 citations
TL;DR: RFLP HLA-DRB1 analysis was performed on a total of 83 children born from HIV-infected mothers, 35 of whom were shown to be HIV- infected, while 48 reverted from seropositivity to seronegativity, indicating that they were not infected.
Abstract: RFLP HLA-DRB I analysis was performed on a total of 83 children born from HIV -infected mothers, 35 of whom were shown to be HIV -infected, while 48 reverted from seropositivity to seronegativity, indicating that they were not infected. Moreover, 89 healthy children were used as controls. It has been found that DRBI-14a and DRBI-13a.4 alleles were not present in the HIV-infected children, but were found in the sero-reverted (HIV-uninfected) children (in the proportion of 9·6 per cent and 5·3 per cent, respectively), and in the controls (5·6 per cent and 3·9 per cent, respectively). The possible correlation between DR and risk of HIV transmission from mother to baby was analysed considering every single allele, estimated by the ratio between the number of infected children and the number of all children born from seropositive mothers. There was also introduced a statistic G for the control of ’statistical validity’ of data.
14 citations
TL;DR: Results suggest that immunohistochemistry is the method of choice for measuring GST pi in breast tumors, and there was strong, inverse relationship between GST pi expression and steroid receptor status with all of the techniques utilized.
Abstract: The glutathione transferases are involved in intracellular detoxification reactions. One of these, GSTπ, is elevated in some breast cancer cells, particularly cells selected for resistance to anticancer agents. We evaluated GSTπ expression in 60 human breast tumors by three techniques, immunohistochemistry, Northern hybridization, and Western blot analysis. There was a significant positive correlation between the three methods, with complete concordance seen in 64% of the tumors. There was strong, inverse relationship between GSTπ expression and steroid receptor status with all of the techniques utili zed. [n addition, there was a trend toward higher GSTπ expression in poorly differentiated tumors, but no correlation was found between tumor GSTπ content and DNA ploidy or %S-phase. GSTπ expression was also detected in adjacent benign breast tissue as well as infiltrating lymphocytes; this expression may contribute to GSTπ measurements using either Northern hybridization or Western blot analysis. These re sults suggest that immunohistochemistry is the method of choice for measuring GSTπ in breast tumors.
14 citations
TL;DR: Three serum markers, TPS, CA 15.3 and CEA, were used to monitor the response to treatment of 20 patients with metastatic breast cancer and it was noted in these patients that TPS values rose earlier than either CA15.3 or CEA.
Abstract: Three serum markers, TPS, CA 15.3 and CEA, were used to monitor the response to treatment of 20 patients with metastatic breast cancer. At the time of the first evidence of metastases or at the time of progression of known metastatic disease, 84% of TPS values were above the reference limit, as compared to 74% for CA 15.3 and 84% for CEA. If the treatment instituted was effective, 60% of TPS values showed an early (within 2 or 3 weeks after commencement or change of therapy) reduction in level against only 27% of CA 15.3 and 27% of CEA levels. This suggests that TPS provides a more sensitive and earlier predictor of therapeutic response. In patients with clinical evidence of further progression of disease while on therapy, 86% of TPS values showed persistent elevation or increase, as compared to 71% of CA 15.3 levels and only 36% of CEA levels. It was also noted in these patients that TPS values rose earlier than either CA 15.3 or CEA. This indicates that TPS is a more reliable predictor of response to treatment than the other two markers. In addition, we found that, at the time of presentation, in women who had visceral metastases (liver, lung, or brain alone or in combination), 87% of TPS values were raised, as compared to 80% of CA 15.3 and 73% of CEA values. In women who had bone and soft tissue metastases at presentation, 75% of TPS values were elevated, against 50% of CA 15.3 and 75% of CEA values.(ABSTRACT TRUNCATED AT 250 WORDS)
TL;DR: This study reviews six articles concerning HLA and disease in the Iraqi population and confirms other studies reported in these racial groups, while other diseases showed different HLA antigen associations from those recorded in other racial groups.
Abstract: The HLA system is deeply involved in susceptibility to a variety of diseases. Relationships between HLA and diseases are of considerable interest and importance, as they provide new tools for studying the inheritance, classification, and pathogenesis of these diseases. Studies on the distribution of HLA antigens in different populations have revealed the existence of racial variation and are therefore a prerequisite for studying HLA and disease associations in different racial groups. This study reviews six articles concerning HLA and disease in the Iraqi population. A comparison of these associations and an analysis of overall antigen frequencies among other Arab population and different ethnic groups are included. Some of our HLA-disease associations confirm other studies reported in these racial groups, while other diseases showed different HLA antigen associations from those recorded in other racial groups.
TL;DR: The data suggest that HLA antigens may contribute to susceptibility to HIV infection and disease progression in Greek haemophiliacs.
Abstract: The frequencies of HLA antigens in 33 HIV seronegative and in 88 HIV seropositive haemophiliacs, who have been followed for at least 6 years since seroconversion or first HIV positive test. were evaluated in relation to disease susceptibility and disease progression. A high frequency of HLA-A2 and -DR2 antigens and a low frequency of HLA-A9 were found to characterize HIV seropositive patients (p<0.05). Progressors to symptomatic CDC stage IV had a higher frequency of HLA-A9 (p<0.01) and DR3. Rapid decline of CD4+ T cells in these patients was associated with HLA-A9, -DR I and DR3. Our data suggest that HLA antigens may contribute to susceptibility to HIV infection and disease progression in Greek haemophiliacs.
TL;DR: There are now many molecular biological techniques available to define HLA class I and class II alleles, some of these are also applicable to other human polymorphic genes, in particular to those non-HLA genes encoded within the Mhc.
Abstract: There are now many molecular biological techniques available to define HLA class I and class II alleles. Some of these are also applicable to other human polymorphic genes, in particular to those non-HLA genes encoded within the Mhc. The range of techniques available allows laboratories to choose those most suited to their purpose. The routine laboratory supporting solid organ transplants will need to type large numbers of potential recipients over a period of time, probably using PCR-SSOP while donors will be typed singly and rapidly using PCR-SSP with HLA allele compatibility determined by heteroduplex analysis. Laboratories supporting bone marrow transplantation, where time is less pressing, can choose from the whole range of techniques to determine accurately donor recipient Mhc compatibility. For disease studies, techniques defining precise HLA allele sequence polymorphisms are needed and high sample numbers have to be accommodated. When an association is established allele sequencing has to be used. In the near future, the precise role of HLA alleles in transplantation and disease susceptibility is likely to be established unambiguously.
TL;DR: In patients with chronic liver disease, serum PLA2 activity increases parallel to disease severity and accompanies the expression of proteins of the acute phase response that, likePLA2 activity, increase in serum while liver synthesis declines.
Abstract: Phospholipase A2 (PLA2) modifications were investigated in patients with acute and chronic liver diseases, PLA2 variations were related to indices of liver function as well as to parameters of the acute phase response Serum PLA2 activity modifications were f1uorimetrically measured in 105 patients affected by acute and chronic liver diseases or extra-hepatic diseases One-way ANOV A demonstrated a significant difference among groups (F= 453, P<0001); Bonferroni’s test for pairwise comparisons showed that patients with hepatocellular carcinoma had higher mean values than subjects with benign extra-hepatic diseases (p<00 I) and mild chronic liver disease (p<00S J Multiple regression analysis, performed choosing PLA2 as the dependent variable and blood urea nitrogen, C-reacti ve protein, alkaline phosphatase and al-fetoprotein as predictor variables was significant (multiple R= 07056, multiple R2= 04978, F= 1536, P= <00001) The standardized regression coefficients found to be significant were those of Creactive protein, blood urea nitrogen and al-fetoprotein In conclusion, in patients with chronic liver disease, serum PLA2 activity increases parallel to disease severity and accompanies the expression of proteins of the acute phase response that like PLA2 activity, increase in serum while liver synthesis declines
TL;DR: It is anticipated that continued progress in this field will eventually lead to the identification of a small, very high risk group of breast cancer gene carriers, which will be more cost-effective in this well-defined and not insignificant subpopulation.
Abstract: There have been a number of recent advances in the genetics of heritable breast cancer. These are already beginning to influence risk assessment in individuals who are considered potentially susceptible to malignancy on the basis of their family history. It is anticipated that continued progress in this field will eventually lead to the identification of a small, very high risk group of breast cancer gene carriers. Diagnostic organ screening, surgical, and pharmacological prophylaxis will be more cost-effective in this well-defined and not insignificant subpopulation. The early findings of Anderson (1974, 1977) and Lynch et al. (1976, 1979) that first degree relatives of breast cancer patients were at particularly high risk if the index case had either malignancy at young age or bilateral disease have recently been reaffirmed (Houlston et al. , 1992; Tulinius et al., 1992a). Houlston et al. provide graphs which estimate, for first degree relatives of breast cancer patients, probability of disease over 10 years and also lifetime probability, according to age of diagnosis of the index case and age of the sister, mother or daughter requiring assessment. Such relative risks are accurate for the population as a whole, yet absolute risk will obviously vary from family to family if some breast cancer pedigrees represent chance clusters of a common malignancy while others are due to a highly penetrant gene. Confirmation that there is indeed heterogeneity (both a genetic and a non-genetic component) in the aetiology of breast cancer pedigrees has come from several statistical analyses of cancer distribution within the families of breast cancer probands. These studies are known as segregation analyses. The relative likelihood of obtaining the observed distribution of affected and unaffected pedigree members is computed under different genetic models such as single gene autosomal dominant, recessive or polygenic inheritance. In most studies the maximum likelihood score achieved by application of the model of a single autosomal dominant gene with 80-90 per cent lifetime penetrance and carried by 16 in every 1000 women has been sufficient to displace other genetic possibilities (Newman et aI., 1988; Claus et al. , 1991; Iselius et al., 1991). In breast cancer pedigrees, some individuals affected by malignancy may be nongene-carriers whereas some unaffected relatives may be gene-carriers who have yet to develop the disease. The relative likelihood that any
TL;DR: It is concluded that RSA families do not differ markedly from normal families in this respect and were unable to confirm any appreciable influence of paternal or feto-maternal HLA sharing on birthweight or placental weight.
Abstract: The mean birthweight of babies eventually born to couples with a history of recurrent spontaneous abortion (RSA) is allegedly lower if the parents have a high degree of HLA antigen sharing (Reznikoff-Etievant et al., 1991), but this relationship has not been independently confirmed. We have re-investigated this question by analysing data from 36 families. In 22 instances, we were able to relate birthweight directly to feto-maternal HLA compatibility for the first time in such families. We were unable to confirm any appreciable influence of paternal or feto-maternal HLA sharing on birthweight or placental weight and conclude that RSA families do not differ markedly from normal families in this respect.
TL;DR: No statistically significant associations were observed between HLA-DP alleles and articular or extra-articular features of RA, or to the severity of the arthritis when p was corrected for the number of alleles tested.
Abstract: The aim of this study was to examine the relationship between HLA-DP and susceptibility to articular and extra-articular features (Felty's syndrome and vasculitis) of rheumatoid arthritis (RA). The possible association of DP types with severity of articular disease was also analysed. No statistically significant associations were observed between HLA-DP alleles and articular or extra-articular features of RA, or to the severity of the arthritis when p was corrected for the number of alleles tested.
TL;DR: The results indicate that epitopes shared by lung and breast cancers are probably more common than previously thought and the relevance for prognosis and therapy of these shared antigens, especially as disease markers in breast cancer, has to be investigated.
Abstract: A panel of monoclonal antibodies (n = 72 including controls) directed against lung cancer antigens was screened immunohistochemically against a panel of seven human lung cancer cell lines (including small cell carcinoma, squamous cell carcinoma, adenocarcinoma and mesothelioma), six human breast cancer cell lines and one human colon cancer cell line. The majority of the antibodies (n = 42) reacted also with antigens present on breast and colon cancer cell lines. This cross reactivity especially between lung and breast cancer cell lines is not altogether unexpected since antigens common to breast and lung tissue including their neoplasms such as MUC1 antigen have been described. Our results indicate that epitopes shared by lung and breast cancers are probably more common than previously thought. The relevance for prognosis and therapy of these shared antigens, especially as disease markers in breast cancer, has to be investigated.
TL;DR: PS2 expression in endometrial tissues from different stages of the menstrual cycle is assessed to determine if there is oestrogen regulation ofpS2 in this tissue, and if so, pS2 could be of value as a marker of functioning endometrium in the menstruation cycle.
Abstract: Since the identification of pS2 mRNA in the MCF-7 human breast cancer cell line (Masiakowski et at. 1982), and its demonstrated response to oestrogen stimulation (Kida et at. 1989; Brown et at. 1984), a great deal of interest has been focused on this small polypeptide. Although a number of studies have demonstrated pS2 expression in the breast, few studies have documented pS2 expression in other tissues. Glandular epithelium of the endometrium, like the breast, is subject to hormonal fluctuations directly related to the organ-specific function. Those studies that have included normal endometrial epithelium, did not detect the pS2 peptide (Rio et at. 1988; Cham bon et al. 1984; Piggot et al. 1991). In endometrial adenocarcinoma, pS2 has been detected but its expression was notably variable (Henry et al. 1991), or very weak (Wysocki et al. 1990). Hormone regulated proteins specifically expressed by glandular endometrium during the menstrual cycle may be of value in the treatment of infertility, acting as markers for the functional readiness of endometrium for implantation. A previous study, evaluating the expression of a number of breastassociated markers in endometrial tissues, showed there to be menstrual cycle phase-specific patterns of immunostaining implicating hormonal regulatory mechanisms (Rye et al. 1993). In view of this, and the reported oestrogen responsiveness ofpS2, we have assessed its expression in endometrial tissues from different stages of the menstrual cycle to determine if there is oestrogen regulation ofpS2 in this tissue. If so, pS2 could be of value as a marker of functioning endometrium in the menstrual cycle. In this study 21 tissues were obtained from dilatation and curettage (D and C) cases, e.g. investigation for dysmenorrhoea, association with laporascopic sterilization, and infertility investigation. Cases were selected on the grounds of having no apparent endocrinological problems and no local organic pathologies. All cases were obtained from patients in the 20 to 30-year-old age group, with a regular cycle history. Tissues were fixed in formaldehyde and paraffin-wax embedded. Endometrial specimens were dated from the last menstrual period and were only used in the study if there was corroboration by independent histological dating which followed standard histological criteria (Hendrickson and Kempson, 1980). The
TL;DR: Thymidine kinase and tissue polypeptide specific antigen were determined in breast cancer patients and were able to detect systemic recurrence before clinical diagnosis (average 2 months lead time).
Abstract: Thymidine kinase (TK) and tissue polypeptide specific antigen (TPS) were determined in breast cancer (BC) patients (n=83), normal healthy women (n=30) and 18 women with different benign mastopathies. Mean serum levels of TK and TPS in BC patients showed significant increases from their corresponding levels in healthy women and those with benign breast diseases. Diagnostic sensitivity of TK and TPS was 47% and 58% respectively at the selected cut-off values 8 VlL for TK and 110 U/L for TPS (96% specificity). Pre-operati ve serum levels of TK and TPS showed significant correlation with the stage of disease and with other classical prognostic factors; clinical stage, tumour size, lymph node involvement and distant metastasis. Nineteen BC patients were followed-up by serial monthly measurements of TK and TPS (4-10 samples). Both markers seemed to be valuable in monitoring drug efficacy. TK and TPS were able to detect systemic recurrence before clinical diagnosis (average 2 months lead time). TPS was greatly affected by liver diseases.
TL;DR: It is quite possible that genes within the region of class I genes create unfavorable circumstances leading to the loss of the sex chromosome or, alternatively, genes in this region confer protection and prevent miscarriage of the affected fetus.
Abstract: HLA-A, -B and -DR antigen distribution was studied in 49 girls with Turner Syndrome (TS), in 43 of their parents, as well as in 433 controls. No increased frequency of DR3, DR4 was found in our group. However, an increased frequency of HLA B17 antigen was disclosed (18.3% in TS versus 6.4% in the controls, p < 0.001 and pc < 0.01). Furthermore, the HLA B17 antigen was of paternal origin in 77.7% of the cases. The interpretation of the present findings is quite difficult. Most likely, the findings are related to the chromosomal abnormality rather than to autoimmunity. It is quite possible that genes within the region of class I genes create unfavorable circumstances leading to the loss of the sex chromosome or, alternatively, genes in this region confer protection and prevent miscarriage of the affected fetus.
TL;DR: It is concluded that only CA 15 3 is a useful marker in advanced disease.
Abstract: CA 15 3 is a circulating glycoprotein defined by two monoclonal antibodies (115 D 8 and DF 3) with good specificity for breast cancer. Tumour-associated antigens have been detected by the monoclonal antibody HMFG 2 using a low pH ELISA method. We compare the values obtained using these two assays in patients with localized and metastatic breast cancer. CA 15 3 and HMFG 2 levels were measured in 61 patients, 24 localized and 37 metastatic, evaluated by standard biochemical and radiological testing. Of the patients with metastatic disease 78.4 per cent had an elevated CA 15 3 level whereas only 8.3 per cent of patients with localized disease had an elevated level (chi 2 = 28.2 p = 0.001); 29.8 per cent of patients with metastatic disease had elevated HMFG 2 levels while among those with localized disease 16.7 per cent had elevated levels (chi 2 = 0.57 p = NS). We conclude that only CA 15 3 is a useful marker in advanced disease.
TL;DR: The study provides no support for the belief that PGM1 phenotype is related to fetal growth or gestation length and it is concluded that the original observations could have arisen as a result of statistical artefact due to multiple testing.
Abstract: This study investigates reports that phosphoglucomutase-1 (PGM1) phenotype is associated with fetal growth and gestation length. A total of 350 women were studied, 234 having uncomplicated pregnancies and 114 with a baby weighing greater than 90th centile, corrected for parity, gestation and fetal sex. All women had gestation confirmed by early ultrasound. Conventional cellulose acetate electrophoresis was used to distinguish the three common PGM1 phenotypes and polyacrylamide gel isoelectric focusing to distinguish the ten PGM1 subtypes. Neither PGM1 phenotype nor subtype were found to be associated with gestation length or standardised birth weight. Logistic regression, where maternal age, parity, fetal sex, maternal weight, gestation and smoking were introduced as explanatory variables in addition to PGM1 phenotype testing against the dependent variables birth weight, standardised birth weight and gestation length, did not show differences related to PGM1 phenotype. Two possible reasons for the discrepancy with previously published data are discussed. We conclude that the study provides no support for the belief that PGM1 phenotype is related to fetal growth or gestation length and that the original observations could have arisen as a result of statistical artefact due to multiple testing.
TL;DR: In the series of 48 cases of CHM, the requirement for chemotherapy was not significantly different in those patients with a CHM of like blood group compared with those with aCHM of unlike blood group.
Abstract: It has been suggested that the ABO blood group of a patient and her partner influence the clinical outcome for patients having a pregnancy with a complete hydatidiform mole (CHM). Since CHM lack red blood Cells, it has not previously been possible to type CHM serologically and investigate the relationship between the blood group of the CHM and that of the patient. In the present study we have demonstrated the feasibility of using molecular genotyping to determine the ABO genotype of CHM, the ABO genotype being consistent with the androgenetic origin of CHM in all cases. In the series of 48 cases of CHM, the requirement for chemotherapy was not significantly different in those patients with a CHM of like blood group compared with those with a CHM of unlike blood group.
TL;DR: Determination of this polymorphisms within the St14 VNTR region increases the expected heterozygosity at the DXS52 locus from 72% to 80%.
Abstract: Recently, a pair of PCR primers have been described that make it possible to amplify a highly polymorphic VNTR locus DX552 (St14). PCR products range in size from approximately 650 to 3000 bp. Ninety X chromosomes from unrelated Caucasian subjects were investigated. Digestion of the PCR products with TaQI revealed the presence of a polymorphic TaQI restriction site within the product 200 bp from the end. This restriction site is present on 60% and absent on 40% of all alleles, but the absence is confined solely to the alleles 1690 bp (39%) and 2100 bp (1%). Thus, there is a strong allelic association between the most frequent 1690 bp allele and the absence of the TaQI restriction site. Determination of this polymorphisms within the St 14 VNTR region increases the expected heterozygosity at the DXS52 locus from 72% to 80%. This increases the fraction of hemophilia A families where this marker is informative for indirect prenatal diagnosis and carrier identification.
TL;DR: The tissue distribution and specificity of a glycoprotein of M(r) 230,000 kDa which has previously been identified from breast carcinomas in culture and shown to be tumour-associated, has been assessed using a polyclonal antiserum.
Abstract: The tissue distribution and specificity of a glycoprotein of Mr 230 OOOkDa which has previously been identified from breast carcinomas in culture and shown to be tumour-associated, has been assessed using a polyclonal antiserum. A wide range of tissues has been examined immunohistochemically. The tissue distribution of the glycoprotein show differences between normal, benign and malignant breast and other epithelial tissues, and are clearly specific for epithelial cells. This glycoprotein as detected by the polyclonal antiserum P5252-2, was either absent or showed a minimal presence in normal breast tissues. Evidence of the expression of the glycoprotein in hyperplastic breast was observed but was considerably less than that seen for carcinomas, for which 70% had greater than 50% of cells exhibiting reactivity with P5252-2. There was no relationship with grade or node status. Similar striking differences in glycoprotein expression between non-neoplastic and neoplastic tissue were observed for stomach, large intestine, thyroid and to lesser extent ovary. The di fferences in the expression of this glycoprotein between normal and malignant tissues is of obvious clinical and pathological potential.
TL;DR: For follow-up of breast cancer patients after surgery both markers were of value and showed near-identical patterns and combined determination of the two markers resulted in some improvement in sensitivity.
Abstract: Serum TPA and CA-125 were determined in 86 individuals (66 with breast cancer representing the different stages and grades of the disease and 20 normal healthy controls). TPA and CA-125 were estimated using the L1A reagents supplied by BYK Sangtec. TPA showed sensitivity rates of 31.8%, 42.4% and 51.5% while CA-125 showed sensitivities of 16.3%, 18.6% and 25.6% at specificity levels of 100%, 95% and 90% respectively. Combined determination of the two markers resulted in some improvement in sensitivity. For follow-up of breast cancer patients after surgery both markers were of value and showed near-identical patterns.