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At least 1,153 records · Page 64Linked to original sources
PubMed2000

Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.

We have collated the results of cystic fibrosis (CF) mutation analysis conducted in 19 laboratories in France. We have analyzed 7, 420 CF alleles, demonstrating a total of 310 different mutations including 24 not reported previously, accounting for 93.56% of CF genes. The most common were F508del (67.18%; range 61-80), G542X (2.86%; range 1-6.7%), N1303K (2.10%; range 0.75-4.6%), and 1717-1G>A (1.31%; range 0-2.8%). Only 11 mutations had relative frequencies >0. 4%, 140 mutations were found on a small number of CF alleles (from 29 to two), and 154 were unique. These data show a clear geographical and/or ethnic variation in the distribution of the most common CF mutations. This spectrum of CF mutations, the largest ever reported in one country, has generated 481 different genotypes. We also investigated a cohort of 800 French men with congenital bilateral absence of the vas deferens (CBAVD) and identified a total of 137 different CFTR mutations. Screening for the most common CF defects in addition to assessment for IVS8-5T allowed us to detect two mutations in 47.63% and one in 24.63% of CBAVD patients. In a subset of 327 CBAVD men who were more extensively investigated through the scanning of coding/flanking sequences, 516 of 654 (78. 90%) alleles were identified, with 15.90% and 70.95% of patients carrying one or two mutations, respectively, and only 13.15% without any detectable CFTR abnormality. The distribution of genotypes, classified according to the expected effect of their mutations on CFTR protein, clearly differed between both populations. CF patients had two severe mutations (87.77%) or one severe and one mild/variable mutation (11.33%), whereas CBAVD men had either a severe and a mild/variable (87.89%) or two mild/variable (11.57%) mutations.

Adult↗
PubMed2002

Predicting the risk of cystic fibrosis with abnormal ultrasound signs of fetal bowel: results of a French molecular collaborative study based on 641 prospective cases.

Hyperechogenic fetal bowel is prenatally detected by ultrasound during the second trimester of pregnancy in 0.1-1.8% of fetuses. It has been described as a normal variant but has often been associated with severe diseases, notably cystic fibrosis (CF). The aim of our study was to determine the risk of CF in a prospective study of 641 fetuses with ultrasonographically abnormal fetal bowel and the residual risk when only one mutation is detected in the fetus. Fetal cells and/or parental blood cells were screened for CFTR mutations. Two screening steps were used, the first covering the mutations most frequently observed in French CF patients (mutation detection rate of 70-90%) and, when a CF mutation was detected, a DGGE-sequencing strategy. We observed a 3.1% risk of CF when a digestive tract anomaly was prenatally observed at routine ultrasound examination. The risk was higher when hyperechogenicity was associated with bowel dilatation (5/29; 17%) or with the absence of gall bladder (2/8; 25%). The residual risk of CF was 11% when only one CF mutation was detected by the first screening step, thereby justifying in-depth screening. Mutations associated with severe CF (DeltaF508 mutation) were more frequently observed in these ultrasonographically and prenatally detected CF cases. However, the frequency of heterozygous cases was that observed in the normal population, which demonstrates that heterozygous carriers of CF mutations are not at increased risk for hyperechogenic bowel. In conclusion, fetal bowel anomalies indicate a risk of severe cystic fibrosis and justify careful CFTR molecular analysis.

Cystic Fibrosis↗
PubMed1994

Molecular analysis of 53 fragile X families with the probe StB12.3.

Fifty-three pedigrees with the fragile X syndrome have been studied for amplification of the CGG repeat sequence adjacent to the CpG island in the FMR1 gene. Probe StB12.3 allowed direct detection of affected males, carrier females, normal transmitting males, as well as prenatal diagnosis. Comparison of our molecular data with our previous linkage data from 38 families indicates the effectiveness of direct DNA analysis. A total of 325 individuals were studied and no new mutation was found. All daughters of males with a premutation had a premutation. When the mother had a full mutation no children had a premutation. In premutated mothers, the size of the premutation seems to be a determining factor for the transition to the full mutation. All affected males had a full mutation or mosaicism and only 42% of the females with a full mutation were mentally impaired. Analysis of large families over 3 generations illustrated clearly the Sherman paradox. Furthermore, the analysis of these families is in reasonable agreement with the multiallelic model of Morton and Macpherson [Proc Natl Acad Sci USA 89:4215-4217, 1992]. Mosaic cases in the offspring of the mothers with a full mutation suggest a maternal germinal mosaicism. Then an abnormal methylation and a somatic heterogeneity established in very early steps of embryogenesis could explain these cases.

Alleles↗
PubMed2003

Hyperechogenic fetal bowel: a large French collaborative study of 682 cases.

Hyperechogenic fetal bowel is detected in 0.1-1.8% of pregnancies during the second or third trimester. This ultrasound sign is associated with cystic fibrosis or other conditions (e.g., chromosomal anomalies, viral infection) but no large-scale prospective studies have been conducted. This 1997-1998 multicenter study in 22 molecular biology laboratories identified 682 cases of hyperechogenic fetal bowel detected by routine ultrasound examination during the second (86%) or third trimester. The fetal bowel was considered hyperechogenic when its echogenicity was broadly similar to, or greater than, that of the surrounding bone. Karyotyping, screening for viral infection, and screening for cystic fibrosis mutations were performed in all cases. Pregnancy outcome and postnatal follow-up were obtained in 656 of the 682 cases (91%). In 447 cases (65.5%), a normal birth was observed. Multiple malformations were observed in 47 cases (6.9%), a significant chromosomal anomaly was noted in 24 (3.5%), cystic fibrosis in 20 (3%), and viral infection in 19 (2.8%). In utero unexplained fetal death occurred in 1.9% of cases, toxemia in 1.2%, IUGR in 4.1%, and premature birth in 6.2%. This study demonstrates that this ultrasound sign is potentially associated with medically significant outcomes. Having established that the bowel is hyperechogenic, recommended investigations should include a detailed scan with Doppler measurements, fetal karyotyping, cystic fibrosis screening, and infectious disease screening. After birth, newborns require pediatric examination because a surgical treatment may be necessary. This should be combined with clear counseling of the parents.

Chromosome Aberrations↗
PubMed2004

The assessment of depression inventory (ADI): a new instrument used to measure depression and to detect honesty of response.

We examined the psychometric properties of the Assessment of Depression Inventory (ADI). This instrument assesses depression and also has validity scales that address response honesty. Three studies were conducted. The first describes the development of the ADI. The second compared the concurrent validity of the ADI Depression (Dep) scale with the BDI-II, and the ADI Feigning (Fg) scale responses of psychiatric inpatients with those of a sample of community volunteers asked to feign depression. The third study was used to cross-validate the results with a separate sample of participants. The ADI Dep scale correlated highly with the BDI-II. Significant differences were also found between the honest patient responders and the non-patient feigners on the Fg scale. The data supports the ADI validity scales as measures of response style and the Dep scale as a measure of depression.

Adult↗
PubMed2003

CFTR genotypes in patients with normal or borderline sweat chloride levels.

In recent years, some patients bearing "atypical" forms of cystic fibrosis (CF) with normal sweat chloride concentrations have been described. To identify the spectrum of mutant combinations causing such atypical CF, we collected the results of CFTR (ABCC7) mutation analysis from 15 laboratories. Thirty patients with one or more typical symptoms of the disease associated with normal or borderline sweat chloride levels and bearing two CFTR mutations were selected. Phenotypes and genotypes of these 30 patients are described. A total of 18 different CFTR mutations were observed in the 60 chromosomes analysed. F508del was present in 31.6 % of the mutated chromosomes and 3849+10kbC>T in 13.3 %. R117H, D1152H, L206W, 3272-26A>G, S1235R, G149R, R1070W, S945L, and the poly-T tract variation commonly called IVS8-5T were also observed. The relative frequency of CFTR mutations clearly differed from that observed in typical CF patients or in CBAVD patients with the same ethnic origin. A mild genotype with one or two mild or variable mutations was observed in all the patients. These findings improve our understanding of the distribution of CFTR alleles in CF with normal or borderline sweat chloride concentrations and will facilitate the development of more sensitive CFTR mutation screening.

Adolescent↗
PubMed1984

Reaction of cis-diamminedichloroplatinum (II) and DNA in B or Z conformation.

The nature of the adducts and the conformational changes produced in poly(dG-m5dC).poly(dG-m5dC) by cis-diamminedichloroplatinum(II) (cisPt) have been studied. In the reaction of cisPt and B-DNA, the main adduct is bidentate and arises from an intrastrand cross-link between two guanine residues separated by a cytosine. This was deduced from the study of the compounds by t.l.c. after acid hydrolysis of the polymer. The platinated polymer is not digested by S1 nuclease. The antibodies to Z-DNA bind to the platinated polymer with a smaller affinity than to poly (dG-br5dC).poly(dG-br5dC). The c.d. spectrum differs from that of poly(dG-br5dC).poly(dG-br5dC) or poly(dG-m5dC).poly-(dG-m5dC) in Z conformation. It is concluded that the bidentate adduct induces a conformational change from the B form towards a distorted Z form. In the reaction of cisPt and Z-DNA, a monodentate adduct is formed. This adduct stabilizes the Z conformation as shown by c.d. and binding to the anti-Z-DNA antibodies. At room temperature, the second function of the drug can still react with small ligands such as NH4HCO3. By heating, the second function reacts with a guanine residue. A bidentate adduct is formed as in the reaction of cisPt and B-DNA and it induces a transition from the Z form to the distorted Z form.

Animals↗
PubMed2002

The fake bad scale in atypical and severe closed head injury litigants.

The correlational and diagnostic properties of Lees-Haley's MMPI-2 Fake Bad Scale (FBS) were examined in litigating atypical minor, litigating moderate-severe, and non-litigating moderate-severe head injury samples. Overall, the FBS was sensitive to both litigation status and nonconforming versus conforming symptom courses. The FBS appeared superior to the MMPI-2 F and F-K scales in differentiating atypical from real brain-injury outcomes. High FBS scorers also had higher scores on somatic complaining (Hs, Hy) and to a lesser degree with psychotic complaints (F, Pa, Sc). FBS showed significant associations with various neuropsychological symptom validity measures. FBS appears to capture a hybrid of infrequent symptom reporting styles with an emphasis on unauthentic physical complaints. However, FBS also correlated with documented abnormal neurological signs within a litigating moderate-severe brain-injury group. Its use as a symptom infrequency measure may have to be modified in more severe injury litigants, as some FBS items may reflect true long-term outcome in severe cerebral dysfunction.

Adult↗
PubMed2004

The MMPI-2 in sexual harassment and discrimination litigants.

In order to understand patterns of respondents on validity and clinical scales, this study analyzed archival Minnesota Multiphasic Personality Inventory 2s (MMPI-2s) produced by 192 women and 14 men who initiated legal claims of ongoing emotional harm related to workplace sexual harassment and discrimination. The MMPI-2s were administered as a part of a comprehensive psychiatric forensic evaluation of the claimants' current psychological condition. All validity and clinical scale scores were manually entered into the computer, and codetype and cluster analyses were obtained. Among the women, 28% produced a "normal limits" profile, providing no MMPI-2 support for their claims of ongoing emotional distress. Cluster analysis of the validity scales of the remaining profiles produced four distinctive clusters of profiles representing different approaches to the test items.

Adult↗
PubMed2001

Simulated pain on the Symptom Checklist 90-Revised.

This study investigated whether a pain clinical sample and pain simulators could be distinguished by their responses on the Symptom Checklist 90-Revised (SCL-90-R). Fifty patients with a pain condition completed the SCL-90-R under normal instructions while 20 students responded under instructions to feign a pain disorder to obtain compensation but to attempt to avoid detection. Pain patients obtained generalized elevations, with the highest scores on Depression, Obsessive-Compulsive, and Somatization. The simulators exceeded the pain group on all clinical scales of the SCL-90-R, tending to greatly overestimate the degree of psychological distress in pain patients. Simulators had extreme elevations and were more likely to obtain a T score greater than 70 on each of the clinical scales. Sensitivity, specificity, positive and negative predictive power values, and optimal diagnostic cutoff scores for the clinical scales are reported. The recommended Positive Symptom Total (PST) cutoff score for "faking bad" in the SCL manual had poor specificity. The SCL-90-R warrants further study as an aid to identifying pain simulation.

Adult↗
PubMed1992

Voluntary stimulus-sensitive jerks and jumps mimicking myoclonus or pathological startle syndromes.

Five patients who presented with stimulus-induced jerking as part of an apparent myoclonic or pathological startle syndrome are reported. Neurophysiological observations in these patients suggested the jerks were voluntary in origin. These included (a) variable latencies to the onset of stimulus induced jerks, (b) latencies were greater than that seen in reflex myoclonus of cortical or brainstem origin, and were (c) longer than the fastest voluntary reaction times of normal subjects, (d) variable patterns of muscle recruitment within each jerk and, (e) significant habituation with repeated stimulation. It is argued that these features are consistent with a voluntary origin for the jerks and enable them to be distinguished from the stereotyped electrophysiological characteristics of myoclonus of cortical and brainstem origin. Electrophysiological recordings may help identify patients with this form of psychogenic movement disorder.

Adult↗
PubMed2001

The fetal cerebellar vermis: normal development as shown by transvaginal ultrasound.

OBJECTIVE: To determine the normal appearance and development of the fetal cerebellar vermis using mid-sagittal planes obtained by transvaginal sonography. SUBJECTS AND METHODS: A total of 101 fetuses were evaluated by transvaginal sonography between 21 and 39 weeks of gestation. The mid-sagittal antero-posterior and cranio-caudal vermian diameters, circumference and surface area were measured and calculated. Nomograms were produced. RESULTS: The vermis was observed in 96% of the cases and all the measurements were performed in 92%. The vermis grows in a linear fashion throughout pregnancy. The growth pattern correlates well with gestational age, biparietal diameter, head circumference and transverse cerebellar diameter. CONCLUSION: Transvaginal sonography is a valuable tool in the study of the fetal vermis during the second half of pregnancy. Knowledge of its normal appearance may help identify developmental anomalies and enable accurate prenatal counseling.

Cerebellum↗
PubMed1988

Prenatal sonographic diagnosis of endocardial fibroelastosis secondary to aortic stenosis.

Endocardial fibroelastosis is characterized by a diffuse thickening of the left ventricular endocardium with or without other cardiac anomalies. This entity had been diagnosed prenatally previously (Bovicelli et al., 1984) at a gestational age of 36 weeks. A case of endocardial fibroelastosis due to aortic stenosis accompanied by pericardial effusion, ascites, and hydramnion, diagnosed ultrasonographically and confirmed pathologically at 21 weeks of gestation, is presented.

Adult↗