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At least 1,171 records · Page 65Linked to original sources
PubMed1998

HLA and complement factors alleles sharing in Italian couples with recurrent spontaneous abortions.

Recurrent Spontaneous Abortion (RSA) is postulated to be due to several factors including immunogenetic mechanisms. Many studies have been conducted on the effect of the MHC region in the reproductive phenomena suggesting an immunological or genetic involvement in RSA. We studied couples with 3 or more abortions among a larger group of couples in which female partners were anti-cardiolipin antibodies negative, resulting in a population of 43 couples typed for HLA-A, B, C, DR, DQ. In 16 of these 43 couples, complement factors C4A, C4B, and Bf were typed. The data shows a statistically significant increase of C4B*Q0 in RSA patients (N = 32) compared with the control population (N = 44) (pc = .00147) and also a statistically significant increase of C4B*Q0 sharing in aborting couples (43.75%) against the expected sharing rate in the control population (1.86%) (p < .001). Frequency increase of C4B*Q0 allele in aborting population leads to the hypothesis that an imbalance of complement factors expression and activity can have detrimental effects on implantation and embryo survival. Additionally, the significant sharing rate of C4B*Q0 in couples with RSA could indicate the existence of a gene in linked to this allele predisposing to RSA and acting in a recessive manner if present in double copies in the fetus.

Abortion, Habitual↗
PubMed1994

Anti-laminin autoantibodies in collagen vascular diseases: the use of adequate controls in studies of autoimmune responses to laminin.

OBJECTIVES: To determine the significance of anti-laminin antibodies in patients with collagen vascular diseases using a large control population of normal individuals. METHODS: Anti-laminin antibodies of IgG isotypes were determined using an ELISA assay in a population consisting of 73 patients with systemic sclerosis, 10 with urticarial vasculitis, five with leukocytoclastic vasculitis, 13 with giant cell arteritis, and eight with dermatomyositis. Sera from 134 healthy individuals served as controls. RESULTS: Only eight sera in the systemic sclerosis group, one in the leukocytoclastic group and one in the giant cell arteritis group were abnormal. No other sera were abnormal. CONCLUSION: These data contradict previous studies using smaller numbers of controls. The necessity for an adequate control population to define abnormal when comparing immune responses among groups is frequently under-emphasised in rheumatological studies.

Autoantibodies↗
PubMedDate not supplied

Parameters of thyroid function in the endemic goitre of Akungba and Oke-Agbe villages of Akoko area of southwestern Nigeria.

The parameters of thyroid function were determined in Akungba and Oke-Agbe communities of Akoko area, where goiter is endemic and compared to a control population of Erinmo and Ifewara in Ijesha area, both areas being in southwestern Nigeria. The two study areas have similar physical and geological settings. However, while the main carbohydrate source of the control population are yam and/or bread-fruit, the Akoko population derives her carbohydrates mainly from cassava which could lead to increased serum thiocyanate, a goitrogen. The serum level of tetraiodothyronine (T4) was significantly (P < 0.05) higher in Ifewara (11.0) and Erinmo (11.8) compared to Akungba (7.1) and Oke-Agbe (8.8[symbol: see text]micrograms/dL). The triiodothyronine (T3) was significantly (P < 0.05) higher in Ifewara (193) than Erinmo (133) and also significantly (P < 0.05) higher in Oke-Agbe (127) compared to Akungba (107 mg/dL). Conversely, thyroid stimulating hormone (TSH) (microU/mL) level was significantly (P < 0.05) higher than values obtained from Ifewara (4.5) and Erinmo (3.3). T3/T4 ratio above 25, indicative of hypothyroidism and endemic goiter, was 14, 7, 4 and 0% from Akungba, Oke-Agbe, Ifewara and Erinmo, respectively. The results of the present study clearly explain the Akoko goiter endemia in the light of modification (s) of thyroid metablism.

Adult↗
PubMed1991

Müllerian tract abnormalities and associated auditory defects.

Fifteen women with müllerian defects and a control population of 15 with normal müllerian systems underwent dynamic audiometric testing. The rate of auditory defects in women with müllerian abnormalities (33%) was significantly higher (P less than .05) than in the control population (0%). Those patients manifested mild, moderate and severe sensorineural defects in the high-frequency range. The defects were not accounted for by age or occupation and were associated with renal agenesis in 60% of the cases. One patient with normal audiometric testing and a septate uterus had a family history significant for an identical twin sister with unilateral renal agenesis, ipsilateral congenital deafness and an unevaluated müllerian tract. The results of the study suggest that a spectrum of auditory changes may exist in association with müllerian defects, ranging from previously described congenital deafness to more subtle hearing defects not clinically evident.

Adult↗
PubMed1990

Radio-functional analysis of the cervical spine using the Arlen method. Part Three: Post-traumatic syndromes. A statistical analysis of 480 subjects.

The purpose of this study was to determine the differences in patterns of cervical mobility diagrams obtained by the Arlen method in a control population of 240 subjects and in a group of 240 patients who had previously sustained an indirect cervical trauma. The characteristics of antero-posterior mobility of the cervical spine in the control population and their variations due to age and sex are summarized. A statistical study is devoted to the amplitudes of the different vertebral segments during flexion and extension. The authors have tried to elucidate the functional features of the injured spine in its totality and at different levels in both flexion and extension. The two groups were compared in an analysis of spinal dysfunctions (hypomobility, loss of mobility, paradoxical mobility).

Adolescent↗
PubMed1980

Methylumbelliferylguanidinobenzoate-reactive proteases in human amniotic fluid: Promising marker for the intrauterine detection of cystic fibrosis.

Over 1,000 specimens of midtrimester human amniotic fluid have been analyzed for 4-methylumbelliferylguanidinobenzoate (MUGB) reactivity. The mean specific activity value (nanomoles of methylumbelliferone (MU) formed per milligram of protein) for the control population (1,037) was 2.37 +/- 0.41. The mean specific activity values from a series of specimens of amniotic fluid derived from abnormal pregnancies (chromosomal and biochemical abnormalities, confirmed neural tube defects, abortions/stillbirths) were found not to vary significantly from value in the control population. The mean specific activity value of blood-tinged samples centrifuged to remove the red blood cell contaminants prior to freezing at -20 degrees C did not vary from the value for the control group, in contrast to the value for samples containing hemolyzed red blood cells (1.76 +/- 0.30). The mean specific activity values for all four groups (control, abnormal, spun and unspun) were found to be significantly different (p less than 0.001) from the mean specific activity value of 1.24 +/- 0.12 for the four cystic fibrosis (CF) amniotic fluids. In addition, upon isoelectric focusing of the control and CF fluids on polyacrylamide gels, pH 5-7, subsequently stained for alpha-N-benzoyl-L-arginine ethyl ester activity, the controls gave a pattern of five activity bands with a pl of 5.1 to 5.4, whereas the CF fluids consistently gave only four. These data suggest the potential value of the MUGB-reactive protease assay for the intrauterine detection of cystic fibrosis.

Amniocentesis↗
PubMed1997

Magnitude and duration of the effect of sepsis on survival. Department of Veterans Affairs Systemic Sepsis Cooperative Studies Group.

OBJECTIVE: To determine the magnitude and duration of the effects of sepsis on survival. DESIGN: Cohort study. SETTING: The 10 Department of Veterans Affairs Medical Centers of the Systemic Sepsis Cooperative Studies Group, which from 1983 to 1986 conducted the Department of Veterans Affairs Cooperative Study of Corticosteroids in Systemic Sepsis. PATIENTS: The septic population consisted of 1505 patients with evaluable data from the screening log of the Cooperative Study of Corticosteroids in Systemic Sepsis. All 91830 nonpsychiatric, noninfected patients discharged from the participating medical centers between October 1, 1984, and September 30, 1985, were included in the control population. MAIN OUTCOME MEASURE: Death through 8 years after the index hospitalization. RESULTS: On the basis of a proportional hazards model constructed from the demographic and illness characteristics of the control population, the septic population was at significant risk of dying of nonseptic causes (26% predicted 1-year mortality). In the septic population, the daily risk of dying exceeded predictions from this model for 5 years, and the hazard rate rose with increasing severity of the septic episode throughout the first year (P<.05). Among 30-day survivors, sepsis reduced the remaining mean life span from a predicted 8.03 years to 4.08 years. CONCLUSIONS: Sepsis not only causes deaths acutely, but also increases the risk of death for up to 5 years after the septic episode even after comorbidities are accounted for. The risk of late death during the first year is associated with the severity of the septic episode.

Aged↗
PubMed1992

Residential exposure to chromium waste--urine biological monitoring in conjunction with environmental exposure monitoring.

To determine whether a population living on or adjacent to four sites of chromate production waste was measurably exposed to environmental chromium, spot samples of urine were collected along with wipe samples of household dust and lifestyle/activity interview data. Findings were compared to those from a control population in two communities with no significant chromium use or waste sites. Urine samples were collected and analyzed, employing measures to minimize background chromium contamination. The average Cr mass in dust was 3.7 times that in control houses. The mean creatinine-corrected urine Cr (Cr/c) level of the exposed subgroup residing in households in the 75th percentile of Cr mass in wipe samples was significantly greater than that of the control population. This subgroup was primarily located at a single exposure location. Using lifestyle/activity data, significantly elevated Cr/c urine levels were identified in other exposed subgroups defined by employment location and by outside play time. These data show an association between elevated exposure to chromium in household dust and elevated urine levels of chromium, consistent with residential exposure to chromate production waste. These data also suggest an association between chromium exposure and activities outside the home which are consistent with exposure to chromate production waste.

Adolescent↗
PubMed2002

High-grade esophageal dysplasia: long-term survival and quality of life after esophagectomy.

BACKGROUND: Esophagectomy for high-grade dysplasia in Barrett's esophagus has been advocated. Although long-term survival data exist, little is known about functional outcome and quality of life in this particular subset of patients. METHODS: The records of all patients who underwent esophageal resection for high-grade dysplasia from June 1991 through July 1997 were reviewed. Long-term functional outcome and quality of life were assessed using a two-part written survey. RESULTS: There were 54 patients (48 men, 6 women). Median age was 64 years (range, 36 to 83 years). Ivor Lewis esophagogastrectomy was performed in 34 patients (63%), transhiatal esophagectomy in 10 (18%), extended esophagectomy in 8 (15%), and other in 2 (4%). Invasive carcinoma was found in 19 patients (35%). Five patients (9%) were stage 0, 7 (13%) stage I, 3 (6%) stage IIA, 1 (2%) stage IIB, and 3 patients (6%) stage III. There was one operative death (1.8%). Complications occurred in 31 patients (57%). Median hospitalization was 13 days (range, 11 to 44 days). Follow-up was complete in all patients and ranged from 6 months to 9 years (median, 63 months). Overall 5-year survival was 86% and did not differ significantly from a population matched for age and gender. Five-year survival for patients with only high-grade dysplasia was 96% and 68% for patients with cancer (p = 0.017). Quality of life was measured by the Medical Outcomes Study 36-Item Short-Form Health Survey. For patients with only high-grade dysplasia, the role-physical and role-emotional scores were better than for the control population (p < 0.03). For patients with cancer, the health perception score was worse than for the control population (p < 0.03). Scores measuring physical-function, social function, mental health, bodily pain, and energy/fatigue were similar. CONCLUSIONS: Although perioperative morbidity is significant, surgical resection of high-grade dysplasia in Barrett's esophagus provides excellent long-term survival with acceptable function and quality of life.

Adult↗
PubMed2000

Reproductive male-mediated risk: spontaneous abortion among wives of pesticide applicators.

This study was conducted among 32 pesticide applicators occupationally exposed to pesticides to determine whether paternal exposure is associated with an increased risk of spontaneous abortion. The ratio of abortion was compared between applicators and a group of 51 food retailers (control population). The ratio of abortions/pregnancies for applicators was 0.27 and for retailers 0.07. OR for spontaneous abortion adjusted for age of wife and smoking of parents is 3.8 times greater than for the control population in the multiple logistic regression model and 7.6 times with interaction effects model.

Abortion, Spontaneous↗
PubMed1999

The gamma-crystallins and human cataracts: a puzzle made clearer.

Despite the fact that cataracts constitute the leading cause of blindness worldwide, the mechanisms of lens opacification remain unclear. We recently mapped the aculeiform cataract to the gamma-crystallin locus (CRYG) on chromosome 2q33-35, and mutational analysis of the CRYG-genes cluster identified the aculeiform-cataract mutation in exon 2 of gamma-crystallin D (CRYGD). This mutation occurred in a highly conserved amino acid and could be associated with an impaired folding of CRYGD. During our study, we observed that the previously reported Coppock-like-cataract mutation, the first human cataract mutation, in the pseudogene CRYGE represented a polymorphism seen in 23% of our control population. Further analysis of the original Coppock-like-cataract family identified a missense mutation in a highly conserved segment of exon 2 of CRYGC. These mutations were not seen in a large control population. There is no direct evidence, to date, that up-regulation of a pseudogene causes cataracts. To our knowledge, these findings are the first evidence of an involvement of CRYGC and support the role of CRYGD in human cataract formation.

Amino Acid Sequence↗
PubMed1985

X-ray microanalysis of chloride in nails from cystic fibrosis and control patients.

Nail clippings from 60 individuals were examined. There were 34 "old" (greater than 16 years) controls, 16 "young" controls and 10 CF patients. In regard to elements found, Si and Al were considered as exogenous contamination. Other elements examined were variable in both control and CF. Examination of the Cl levels among the 3 groups showed a highly significant difference between the mean Cl integral values of the young controls (619 integral) and the CF patients (2956 integral). The results of the older control population ranged from 0-905 integral with a mean of 269 integral. We found no age or sex difference in the amount of Cl or any other element from either the CF or control population. Results show that the x-ray energy dispersive system (EDS) is very useful in studying the Cl in nails. We found that examination of nails frozen in liquid nitrogen followed by fracturing without prior washing was the preferred method. Although the results of this study clearly show statistically the value of EDS analysis of Cl in the diagnosis of CF, we must await further study of a larger group of patients to determine its usefulness in evaluating individual patients, particularly newborns.

Adolescent↗
PubMed2002

Characterization of common BRCA1 and BRCA2 variants.

Many missense variants identified in BRCA1 and BRCA2, two genes responsible for the majority of hereditary breast and ovarian cancer, are of unclear clinical significance. Characterizing the significance of such variants is important for medical management of patients in whom they are identified. The aim of this study was to characterize eight of the most common reported missense mutations in BRCA1 and BRCA2 occurring in patients tested for hereditary risk of breast and ovarian cancers. The prevalence of each variant in a control population, co-segregation of the variant with cancer within families, location of the variant within the gene, the nature of the amino acid substitution and conservation of the wild-type amino acid among species were considered. In a control population, the BRCA1 variants M1652I, R1347G, and S1512I, were each observed at a frequency of 4.08%, 2.04%, and 2.04%, respectively, and the BRCA2 variants A2951T, V2728I, and D1420Y, were seen at 1.02%, 0.68%, and 0.34%, respectively. Although the BRCA2 variants T598A and R2034C were not seen in this group of controls, other clinical and published observations indicate that these variants are not deleterious. Based on epidemiological and biological criteria, we therefore conclude that the BRCA1 missense mutations R1347G, S1512I and M1652I, and the BRCA2 missense mutations T598A, D1420Y, R2034C, V2728I, and A2951T, are not deleterious mutations.

Amino Acid Substitution↗
PubMed1994

A randomized trial of prenatal ultrasonographic screening: impact on the detection, management, and outcome of anomalous fetuses. The RADIUS Study Group.

OBJECTIVE: The objective of this randomized clinical trial was to test the hypothesis that ultrasonographic screening would significantly alter perinatal outcome as a result of the antenatal detection of fetal congenital malformations. STUDY DESIGN: Pregnant women without a specific indication for ultrasonography were randomly assigned to have either two screening sonograms (15 to 22 weeks and 31 to 35 weeks) or conventional obstetric care with ultrasonography used only as determined by the clinical judgment of the patient's physician. The frequency of birth defect detection in the screened and control populations was compared, as was the impact of discovery on pregnancy outcome. RESULTS: Major congenital malformations occurred in 2.3% of the 15,281 fetuses and infants in this study. Antenatal ultrasonography detected 35% of the anomalous fetuses in the screened group versus only 11% in the control population (relative detection rate 3.1; 95% confidence interval 2.0 to 5.1). Ultrasonography screening did not, however, significantly influence the management or outcome of pregnancies complicated by congenital malformations. Specifically, only 9 abortions were performed for anomalies among 7685 fetuses in the screened group whereas 4 pregnancies were terminated for fetal anomalies detected among 7596 control subjects. Ultrasonography screening also had no significant impact on survival rates among infants with potentially treatable, life-threatening anomalies despite the opportunity to take precautionary measures such as delivery in a tertiary center. CONCLUSIONS: Ultrasonography screening in a low-risk pregnant population had no significant impact on the frequency of abortion for fetal anomalies. Survival rates for anomalous fetuses were also unaffected by screening.

Abortion, Induced↗
PubMed1974

Insect control of the future: operational and policy aspects.

uman and insect population control have several features in common, all of them indicating that the lag times in converting laboratory discoveries into practical agents are increasing greatly and that ROI calculations are becoming more and more significant in decisions related to the development of new agents. ROI calculations are particularly important in the field of insect control because, by being more specific, the agents of the future are likely to cover smaller markets. Several recommendations for stimulating the development of new methods of insect control are proposed which are addressed primarily to policy-makers. If they are not implemented, then our suggestions should at least stimulate others to make alternative proposals. If neither event occurs, then it is unlikely that there will be any fundamentally new approaches to practical insect control in this decade; a similar prediction (6) that was made 4 years ago in the field of human birth control is rapidly proving to be correct.

Animals↗
PubMed1992

Expression of serum insulin-like growth factors, insulin-like growth factor-binding proteins, and the growth hormone-binding protein in heterozygote relatives of Ecuadorian growth hormone receptor deficient patients.

Recently, an isolated population of apparent GH-receptor deficient (GHRD) patients has been identified in the Loja province of southern Ecuador. These individuals presented many of the physical and biochemical phenotypes characteristic of Laron-Syndrome and are believed to have a defect in the GH-receptor gene. In this study, we have compared the biochemical phenotypes between the affected individuals and their parents, considered to be obligate heterozygotes for the disorder. Serum GH, insulin-like growth factor I and II (IGF-I and IGF-II) levels were measured by RIA Insulin-like growth factor binding proteins. (IGFBPs) were measured by Western ligand blotting (WLB) of serum samples, following separation by sodium dodecyl sulfate-polyacrylamide gel electrophoresis, and relative quantitation of serum IGFBPs was performed with a scanning laser densitometer. Serum GH-binding protein (GHBP) levels were measured with a ligand-mediated immunofunctional assay using a monoclonal antibody raised against the GHBP. These values were then compared to values obtained from normal, sex-matched adult Ecuadorian controls, to determine if the above parameters were abnormal in the heterozygotes. The serum IGF-I levels of the GHRD patients were less than 13% of control values for adults and 2% for children. However, the IGF-I levels of both the mothers and fathers were not significantly different from that of the control population. The serum IGF-II levels of the GHRD patients were approximately 20% of control values for adults and 12% for the children. The IGF-II levels of the mothers were reduced, but were not significantly different from that of the control population. However, IGF-II levels of the fathers were significantly lower than those of controls (64% of control male levels). WLB analysis of serum IGFBP levels of the affected subjects demonstrated increased IGFBP-2 and decreased IGFBP-3, suggesting an inverse relationship between these IGFBPs. The GHRD patients who had the lowest serum IGFBP-3 levels (as measured by WLB) demonstrated a serum protease activity that could proteolyze 125I-IGFBP-3. GHRD patients who had higher serum IGFBP-3 levels lacked this serum protease activity. There were no differences in the serum IGFBP profiles of the mothers or the fathers for either IGFBP-2 or IGFBP-3, and serum from both groups lacked the ability to significantly proteolyze 125I-IGFBP-3. While GHRD patients had very low levels of serum GHBP, some patients did have measurable GHBP levels.(ABSTRACT TRUNCATED AT 400 WORDS)

Adolescent↗
PubMed2001

A schizophrenia-susceptibility locus at 6q25, in one of the world's largest reported pedigrees.

We have completed a genome scan of a 12-generation, 3,400-member pedigree with schizophrenia. Samples from 210 individuals were collected from the pedigree. We performed an "affecteds-only" genome-scan analysis using 43 members of the pedigree. The affected individuals included 29 patients with schizophrenia, 10 with schizoaffective disorders, and 4 with psychosis not otherwise specified. Two sets of white-European allele frequencies were used-one from a Swedish control population (46 unrelated individuals) and one from the pedigree (210 individuals). All analyses pointed to the same region: D6S264, located at 6q25.2, showed a maximum LOD score of 3.45 when allele frequencies in the Swedish control population were used, compared with a maximum LOD score of 2.59 when the pedigree's allele frequencies were used. We analyzed additional markers in the 6q25 region and found a maximum LOD score of 6.6 with marker D6S253, as well as a 6-cM haplotype (markers D6S253-D6S264) that segregated, after 12 generations, with the majority of the affected individuals. Multipoint analysis was performed with the markers in the 6q25 region, and a maximum LOD score of 7.7 was obtained. To evaluate the significance of the genome scan, we simulated the complete analysis under the assumption of no linkage. The results showed that a LOD score >2.2 should be considered as suggestive of linkage, whereas a LOD score >3.7 should be considered as significant. These results suggest that a common ancestral region was inherited by the affected individuals in this large pedigree.

Adult↗
PubMed1992

The value of dynamic color duplex scanning in the diagnosis of venogenic impotence.

To determine the value of color duplex scanning in the diagnosis of venogenic impotence we examined 53 patients. The control population consisted of 26 psychogenically impotent men and 8 normal potent men who all had a firm erection after pharmacological stimulation. There was no significant difference in the values of duplex parameters between these 2 groups. The venous leak population was characterized by a bad erectile response to pharmacological stimulation despite a good arterial compliance and by a persistent diastolic flow as shown by duplex scanning. There was a significant difference with the control population for the parameters of resistance index after 10 minutes (p = 0.001), minimal resistance index (p = 0.016) and corporeal volume increase (p = 0.010). There was a good correlation between the results of duplex scanning and those of pharmacocavernosography-pharmacocavernosometry (93%). We conclude that dynamic color duplex scanning can be used as a screening procedure to diagnose significant venous leakage in an objective manner with the resistance index.

Aged↗