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Biomedical subjects

J Philip

Publications and source records attributed to J Philip.

At least 73 records · Page 4Linked to original sources
PubMed1995

Influences of age at onset of blindness on Braille reading performances with left and right hands.

Several previous studies suggest that early sensory deprivation produces a changed organisation of the cerebral cortex. This study compared the effects of early and late total blindness on a Braille reading task. This task is intended to induce a superiority of the left hand rather than the right because of the particular role played by the right hemisphere in Braille decoding. 38 strongly right-handed adults, accustomed to daily bimanual Braille reading, were tested. 21 subjects were born blind and 17 became blind during childhood before learning to read. Analysis indicated that previous visual experience can, under certain conditions, play a modulating role in manual superiority in Braille reading.

Adult↗
PubMed1995

Early sonographically guided amniocenteses with filtration technique: follow-up on 249 procedures.

Fetal and neonatal outcome is reported for 249 consecutive low-risk pregnancies in which early amniocentesis was carried out with filter technique, at a mean gestational age of 12.5 weeks, to improve the yield in cell cultures. Three pregnancies (1.2%) were terminated because of abnormal test results, four stillbirths (1.6%) occurred between weeks 33 and 38, and five pregnancies were lost spontaneously after sampling, corresponding to 2% of unintended fetal losses before 28 weeks of gestation. Of the live-born infants, 2.9% were delivered prematurely, all between weeks 32 and 37. Malformations and orthopedic postural deformities were not associated with leakage after amniocentesis and were found at expected rates. None of the cases was lost to follow-up. The increase in abortion rate caused by early amniocentesis with filter technique is likely to be within the same range as that seen after routine amniocentesis and transabdominal chorionic villus sampling, although the sample is too small for a proper risk evaluation.

Abortion, Induced↗
PubMed1995

Comparative genomic hybridization in clinical cytogenetics.

We report the results of applying comparative genomic hybridization (CGH) in a cytogenetic service laboratory for (1) determination of the origin of extra and missing chromosomal material in intricate cases of unbalanced aberrations and (2) detection of common prenatal numerical chromosome aberrations. A total of 11 fetal samples were analyzed. Seven cases of complex unbalanced aberrations that could not be identified reliably by conventional cytogenetics were successfully resolved by CGH analysis. CGH results were validated by using FISH with chromosome-specific probes. Four cases representing common prenatal numerical aberrations (trisomy 21, 18, and 13 and monosomy X) were also successfully diagnosed by CGH. We conclude that CGH is a powerful adjunct to traditional cytogenetic techniques that makes it possible to solve clinical cases of intricate unbalanced aberrations in a single hybridization. CGH may also be a useful adjunct to screen for euchromatic involvement in marker chromosomes. Further technical development may render CGH applicable for routine aberration screening.

Chromosome Aberrations↗
PubMed1995

[Rapid detection of numerical aberrations of chromosomes in the first trimester of pregnancy by using fluorescence in situ hybridization (FISH)].

Fluorescence in situ hybridization (FISH) has been applied for rapid prenatal diagnosis of common numerical aberrations of chromosomes. We used FISH with chromosome 13, 18 and 21 specific probes on 528 uncultured mesenchymal chorionic villi cell samples to detect the chromosomal abnormalities, and we also performed the conventional chromosome analysis of cultured cells from parallel samples. The results showed, in samples disomic with respect to the probed chromosomes, and average of 1 percent (range 0-18 percent) had three hybridization signals. By contrast, in the samples trisomic or triploidic for the probed chromosomes, an average of 70 percent (52-84 percent) (chromosome 13), 73 percent (68-84 percent) (chromosome 18), and 76 percent (54-90 percent) (chromosome 21, including one case of mosaic trisomy 21) of the nuclei displayed three signals. The whole test took about 24 hours. We concluded that FISH can provide a rapid and accurate method for the first trimester prenatal idetification of selected numerical aberrations of chromosomes.

Chorionic Villi Sampling↗
PubMed1994

Implications of maternal serum alpha-fetoprotein elevation caused by transabdominal and transcervical CVS.

Of 2882 women allocated to either transabdominal CVS (TA) or transcervical CVS (TC) at two large obstetric centres in Denmark, 2707 had blood samples drawn before and 30 min after CVS for maternal serum-alpha-fetoprotein (MSAFP) measurement. 2535 of these women had cytogenetically normal pregnancies and 2091 of them went on to have samples drawn at the 18-20 week follow-up. Post-procedure MSAFP values were correlated to the biopsy method used, with mean MSAFP values significantly higher after TA than TC, 33 and 15 kU/l, respectively (P < 0.001). Following TA procedures, 18 per cent of cases had feto-maternal transfusion higher than 0.1 ml; this occurred in only 5 per cent of TC cases. MSAFP levels were associated with spontaneous fetal loss in the TA group but not in the TC group. TC, however, was followed by more losses than TA. The post-CVS MSAFP value was positively correlated with the amount of villi aspirated. The difference in post-procedure elevation in MSAFP 30 min later (average 18 kU/l higher for TA than for TC) was not reflected in raised levels at the 18-20 week follow-up. Study medians at mid-trimester did not differ from reference group medians established from a group of singleton pregnancies with sonographically determined gestational age who did not experience invasive procedures and delivered normal infants. Our findings suggest that CVS does not compromise mid-trimester MSAFP for screening for neural tube defects (NTDs). Extremely high mid-trimester MSAFP values in the TC group could predict imminent loss.

Abdomen↗
PubMed1994

Fluorescence in situ hybridization with a chromosome 21-specific cosmid contig: 1-day detection of trisomy 21 in uncultured mesenchymal chorionic villus cells.

We present a modified, fast trisomy 21 detection assay using fluorescence in situ hybridization (FISH) on uncultured mesenchymal chorionic villus cells. The whole test takes about 24 h. We used a cosmid contig as a probe and modified an in situ sample preparation method first described by Klinger et al. (1992). The assays saves time and cost of culture in comparison with a previously described trisomy 21 detection FISH assay (Bryndorf et al., 1993). A small blind clinical study comparing the modified and the previously described FISH assays using mesenchymal chorionic villus cells showed comparable results and concordance with conventional cytogenetic analysis. The frequency of nuclei with three hybridization signals from samples disomic for chromosome 21 ranged from 0 to 8 per cent with both assays, while trisomic samples had 60-80 and 54-90 per cent of the mesenchymal nuclei with three signals in the modified and previously described assays, respectively. Normal (disomic) and trisomic mesenchymal chorionic villus samples can be distinguished clearly and rapidly without culture in the modified assay.

Base Sequence↗
PubMed1994

Prenatal aneuploidy detection in interphase cells by fluorescence in situ hybridization (FISH).

FISH is a quick, inexpensive, accurate, sensitive and relatively specific method for aneuploidy detection in samples of uncultured chorionic villus cells and amniotic fluid cells. FISH allows detection of the autosomal trisomies 13, 18 and 21 and X and Y abnormalities and any other chromosome abnormality for which a specific probe is available. The detection rate of these abnormalities is high in informative samples which have a concordance of > 99.5% with cytogenetic results. A relatively high number of abnormal cases are found in uninformative samples. However, such samples should be regarded as samples to be investigated further. Clinical experience with the use of FISH for prenatal diagnosis is now beyond 10,000 cases; a number of clinical protocols and smaller trials have also been carried out, resulting in 90% of attempted analyses giving informative results with a high detection rate and extraordinarily low false-positive and false-negative rates. Unsolved problems remain, such as occasional technical failures, admixtures of maternal blood and up to 20% uninformative scoring results, especially for abnormal specimens. FISH is at present used as an adjunct to classical cytogenetic analysis. However, this should not be interpreted as meaning that FISH could not be used as a methodology in its own right. If FISH were to be considered a diagnostic test then this might be the case, due to the risk of false-negative and false-positive results and the fact that FISH does not allow a diagnosis of certain structural abnormalities. If, on the other hand, FISH is considered a screening test, which means that in all abnormal (or indeterminate) cases, classical cytogenetic analysis would follow the abnormal screening test, the accuracy which is potentially higher than for other screening methods, for example in cases of trisomy 21, justifies FISH as a prenatal screening test in its own right.

Amniotic Fluid↗
PubMed1994

Health Belief Model variables as predictors of screening mammography utilization.

Despite its efficacy, screening mammography is not widely utilized due to various factors. The Health Belief Model (HBM) has previously been used as one conceptualization of relevant patient attitudes. No psychometrically validated measure of these variables has previously been utilized, however, nor have prospective studies of women all of whom have been referred by their physicians for mammography been reported. The research reported here addressed both of those issues. A psychometrically validated measure of the HBM variables, perceived susceptibility, barriers, and benefits, was used, along with age, education, ethnicity, and family breast cancer history to predict mammography utilization in a prospective study of hospital employees. Being white, perceiving fewer benefits of and barriers to mammography, and having a family history of breast cancer were predictive of noncompliance. The avoidant behavior of employees with a family history of breast cancer must be addressed in attempts to increase mammography utilization. In addition, results of the study imply the need for full discussion with women referred for mammography of all issues related to its use, both its benefits and possible barriers.

Adaptation, Psychological↗
PubMed1994

Intrathecal sufentanil compared to epidural bupivacaine for labor analgesia.

BACKGROUND: Although intrathecal sufentanil has been reported to provide rapid-onset, complete analgesia lasting 1-3 h for the first stage of labor, no well-controlled double-blind study has compared this technique to the use of epidurally administered local anesthetics. METHODS: Fifty healthy parturient women requesting labor analgesia were studied. In a combined spinal-epidural technique, a spinal needle was inserted through the epidural needle before insertion of the epidural catheter. Patients were randomly assigned to receive either intrathecal sufentanil (10 micrograms) and epidural saline, or intrathecal saline and epidural bupivacaine (30 mg). Visual analog scores for pain, blood pressure, heart rate, sensory levels, and the incidence of nausea, pruritus, and motor blockade were recorded. RESULTS: Patients receiving intrathecal sufentanil had significantly lower visual analog pain scores at 5, 15, and 30 min after injection and a greater duration of analgesia before requesting additional medication (mean 123 vs. 68 min for those receiving bupivacaine; P < 0.05). These patients also experienced pruritus more frequently but motor blockade less frequently than patients receiving epidural bupivacaine. The groups exhibited dermatomal sensory deficits to pin prick as well as bradycardia and hypotension with equal frequency. The length of labor and type of delivery were similar between the groups. No patient experienced a post-dural puncture headache. CONCLUSIONS: The rapid onset of analgesia and lack of motor blockade from intrathecal sufentanil injection may be advantageous in certain clinical situations. With this technique, however, pruritus is common; hypotension may occur; and extensive dermatomal spread suggests that early-onset respiratory depression could occur. Therefore, blood pressure and respiratory adequacy should be monitored if intrathecal sufentanil is used.

Adult↗
PubMed1994

Simultaneous confocal recording of multiple fluorescent labels with improved channel separation.

Confocal microscopes are often used to study specimens labelled with fluorophores. A commonly used method for simultaneous recording of the distribution of multiple fluorophores is to divide the fluorescent light emitted by the specimen into different wavelength regions using dichroic and bandpass filters. These different wavelength regions are then distributed to multiple detectors. However, the broad and overlapping spectra of commonly used fluorophores often result in considerable crosstalk between channels. A new technique, intensity-modulated multiple-beam scanning (IMS) microfluorometry, can be used to reduce this cross-talk substantially. The IMS technique is implemented with two laser beams of different wavelengths, intensity-modulated at different frequencies, which illuminate the specimen simultaneously. The two laser wavelengths predominantly excite one fluorophore each. Fluorescent light from the specimen is divided into two wavelength regions (red and green) which are detected by two photomultiplier tubes. The output signals from the photomultiplier tubes are connected to lock-in amplifiers. The effect of using modulated laser beams, in combination with lock-in amplifiers, is strongly to reduce cross-talk between the channels. The performance of the IMS technique using various types of specimen is compared with the results obtained using the conventional multi-detector method.

Animals↗
PubMed1993

[Early amniocentesis].

Genetic amniocentesis performed at 7-14 weeks of gestation was studied in a series of 138 patients of whom 50 wanted termination of pregnancy (< or = 12 weeks). The material for analysis consisted of 132 samples due to two sampling failures and four samples being handled incorrectly. Forty-eight samples (36 percent) were taken at 7-12 weeks of gestation, mainly transvaginally (36/48:75 percent). The success rate of culture and karyotyping increased with the duration of pregnancy, but was only satisfactory from week 11 onwards. The time until harvest was then 14-15 days. The transvaginal approach is easy to perform and was accepted by the women, but we experienced bacterial or fungal overgrowth in 17 percent of these samples, whereas no infection occurred in the samples taken transabdominally (n = 96). We conclude that genetic amniocentesis is feasible from week 11, but further studies concerning side effects, especially focusing on the procedure-related abortion risk, should be carried out before early amniocentesis is routinely applied.

Adolescent↗
PubMed1993

[Randomized comparison of transabdominal, transcervical chorionic villi sampling and amniocentesis].

The transabdominal chorionic villus sampling method was compared with the transcervical route and second trimester amniocentesis in a 3-winged randomised trial. Examination of 45 epidemiological variables showed the three procedure groups to be comparable at enrollment. In 3079 women at low genetic risk, we compared transabdominal with transcervical chorionic villus sampling and amniocentesis. The total fetal loss was 10.9%, 6.3% and 6.4% in the transcervical, transabdominal chorionic villus sampling groups and the amniocentesis group, respectively (p < 0.001). The two CVS procedures were compared in 2882 low and high genetic risk women with cytogenetically normal fetuses. Rates of unintended post-procedure loss were 3.7% and 7.7% for transabdominal CVS and transcervical CVS, respectively (p < 0.001), difference in rates 4.0%, 95% C.I. +2.3% to +5.8%. By a priori ultrasound scanning, more transcervical than transabdominal procedures (p < 0.001) were considered to be inaccessible for sampling. Our data indicate that transabdominal allows freer access to the placental site than transcervical sampling and is easier to adapt to than transcervical CVS. Women run comparable risks with transabdominal CVS and amniocentesis. Given the results of our study, transabdominal procedures remain the first choice for prenatal diagnosis and, since in our hands transcervical sampling entails an increased fetal risk, we have abandoned transcervical CVS in our two study centres.

Adult↗