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Biomedical subjects

D Day

Publications and source records attributed to D Day.

At least 37 records · Page 2Linked to original sources

High-risk obstetric patients. Maternal morbidity after cesareans.

OBJECTIVE: To assess maternal morbidity associated with cesarean delivery among high-risk obstetric patients in a private practice setting. STUDY DESIGN: Maternal outcome parameters were prospectively studied in 1,000 consecutively delivered patients over a one-year period. RESULTS: Three hundred forty-one patients (34%) delivered by cesarean; 194 of the procedures were performed without labor. The incidence of febrile morbidity and wound infection in patients undergoing cesarean delivery without labor, 0.5%, was no greater than that of patients who delivered vaginally (P = 1.0). There was a higher incidence of transfusion in patients delivered by cesarean without labor, but these patients were more likely to have preoperative anemia (P = .036). Patients undergoing cesarean with labor or ruptured membranes had an increased incidence of both febrile morbidity (P = .023) and wound seroma (P = .008). CONCLUSION: Maternal morbidity following cesarean delivery in high-risk obstetric patients in a private practice setting is low.

Cesarean Section↗

Pressure ulcer prevention: review of literature.

Much has been written about the causes, prevention, and nursing management of pressure ulcers. A review of current literature on the subject reveals that, in spite of the enormity of information available, the problem continues to consume a large percentage of nursing time and energy. Studies of aggressive prevention and ongoing continuing education programs have demonstrated significant reduction of incidence and time of treatment, as well as dramatic cost savings. The Agency for Health Care Policy and Research (AHCPR) has recommended that all patients at risk for pressure ulcer development be placed on some form of pressure-reducing support surface. There is a wide variety of these products available, but a surprisingly limited quantity of published articles specifically compare the efficacy of one product to another.

Adolescent↗

Novel regulation of keratin gene expression by thyroid hormone and retinoid receptors.

Expression of keratin proteins, markers of epidermal differentiation and pathology, is uniquely regulated by the nuclear receptors for retinoic acid (RAR) and thyroid hormone (T3R) and their ligands: it is constitutively activated by unliganded T3R, but it is suppressed by ligand-occupied T3R or RAR. This regulation was studied using gel mobility shift assays with purified receptors and transient transfection assays with vectors expressing various receptor mutants. Regulation of keratin gene expression by RAR and T3R occurs through direct binding of these receptors to receptor response elements of the keratin gene promoters. The DNA binding "C" domain of these receptors is essential for both ligand-dependent and -independent regulation. However, the NH2-terminal "A/B" domain of T3R is not required for either mode of regulation of keratin gene expression. Furthermore, v-ErbA, an oncogenic derivative of cT3R, also activates keratin gene expression. In contrast to the previously described mechanism of gene regulation by T3R, heterodimerization with the retinoid X receptor is not essential for activation of keratin gene expression by unliganded T3R. These findings indicate that the mechanism of regulation of keratin genes by RAR and T3R differs significantly from the mechanisms described for other genes modulated by these receptors.

Base Sequence↗

Factors predicting successful labor induction.

OBJECTIVE: To evaluate maternal parity, the sonographic measurement of cervical length, and the five components of the Bishop score to determine which factors best predict the length of latent-phase labor in women undergoing labor induction. METHODS: Cervical position, cervical consistency, cervical effacement, cervical dilation, station of fetal presenting part, maternal parity, and sonographic measurement of cervical length were studied prospectively in 109 women undergoing labor induction. A multiple regression model was used to determine which factors best predict the length of latent-phase labor. RESULTS: A model using these seven factors was predictive in determining the number of hours of latent-phase labor (F = 32.1, P < .001). Backward stepwise multiple linear regression indicated that only cervical dilation independently predicted the length of latent-phase labor. There was a significant correlation between the clinical assessment of cervical effacement and the sonographic estimation of cervical length, (r = -0.523, P < .001). CONCLUSION: Only cervical dilation appears to predict the length of latent-phase labor. The sonographic evaluation of cervical length and maternal parity do not add significant independent information.

Cervix Uteri↗

Texture segmentation along the horizontal meridian: nonmonotonic changes in performance with eccentricity.

In 3 experiments, subjects were required to detect the presence of a small region of disparate texture embedded in a larger background at a range of eccentricities. Detection performance always peaked several degrees from fixation. Experiment 1 showed that the location of the peak was not retinally specific; scaling the display changed the location of the performance peak. Experiment 2 showed that poor foveal performance could not be explained by cross-frequency interference; filtering out high spatial frequencies did not lead to improved foveal performance. Experiment 3 showed that the effect is not unique to textures comprising left and right oblique line segments. A parsimonious account of these data is that, at the fovea, there is a mismatch between the scale of the texture and the scale of the mechanisms responsible for encoding texture differences. This mismatch diminishes as the textures are moved further into the periphery.

Attention↗

FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.

Fibroblast growth factor receptor 2 (FGFR2) mutations have been associated with the craniosynostotic conditions Crouzon, Jackson-Weiss, and Pfeiffer syndromes. Previously, mutations were described in the exons IIIa and IIIc, which form the extracellular, third immunoglobulin-like domain (IgIII) and adjacent linker regions, both of which are normally involved in ligand binding. For all three conditions, mutations were found in exon IIIc. Only in Crouzon syndrome were mutations identified in exon IIIa. In this study, 39 cases with one of these three conditions were screened for exon IIIa or IIIc mutations. Eleven mutations are reported in 17 unrelated cases. Mutations in exon IIIa are identified for not only Crouzon but also Jackson-Weiss and Pfeiffer syndromes. Four mutations in either exon IIIa or exon IIIc reported only in Crouzon syndrome are present also in one of the other two syndromes. Two insertions, one in exon IIIa in a Crouzon syndrome patient and the other in exon IIIc in a Pfeiffer syndrome patient, were observed. The latter mutation has the same alternative RNA splicing effect as a reported synonymous mutation for Crouzon syndrome. A missense mutation was detected in one Pfeiffer syndrome family in which two members had craniosynostosis without limb anomalies. The inter- and intrafamilial variability in expression of FGFR2 mutations suggests that these three syndromes, presumed to be clinically distinct, are instead representative of a spectrum of related craniosynostotic and digital disorders.

Acrocephalosyndactylia↗

Splicing mutation in CYP21 associated with delayed presentation of salt-wasting congenital adrenal hyperplasia.

Patients with salt-wasting congenital adrenal hyperplasia (SW-CAH) most commonly carry an A-G transition at nucleotide 656 (nt 656 A-->G), causing abnormal splicing of exons 2 and 3 in CYP21, the gene encoding active steroid 21-hydroxylase. Affected infants are severely deficient in cortisol and aldosterone, and usually come to medical attention during the neonatal period. We report on 2 affected boys, homozygous for the nt 656 mutation, who thrived in early infancy, but suffered salt-wasting crises unusually late in infancy, at 3.5 and 5.5 months, respectively. Laboratory studies at presentation showed hyponatremia, hyperkalemia, dehydration, and acidosis; serum aldosterone was low in spite of markedly elevated plasma renin activity. Basal 17-hydroxyprogesterone levels were only moderately elevated, yet the stimulated levels were more typical of severe, classic CAH due to 21-hydroxylase deficiency. Genomic DNA from the patients was analyzed. Southern blot showed no major deletions or rearrangements. CYP21-specific amplification by polymerase chain reaction, coupled with allele-specific hybridization using wild-type and mutant probes at each of 9 sites for recognized disease-causing mutations, revealed a single, homozygous mutation in each patient: nt 656 A-->G. These results were confirmed by sequence analysis. We conclude that the common nt 656 A-->G mutation is sometimes associated with delayed phenotypic expression of SW-CAH. We speculate that variable splicing of the mutant CYP21 may modify the clinical manifestations of this disease.

Acidosis↗

Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.

Mutations have been reported for several craniosynostotic disorders in exon IIIa (exon U or 7) or IIIc (exon B or 9) of the fibroblast growth factor receptor 2 gene (FGFR2). Among the conditions with FGFR2 mutations are two autosomal dominant syndromes, Crouzon and Jackson-Weiss. In this study, 24 Crouzon and one Jackson-Weiss syndrome patients were screened for mutations in the two exons by direct sequencing, and mutations were detected in 28% (7/25) of all cases. Five different mutations were found including two novel (W290G, C342W) and two previously reported, recurrent mutations for Crouzon syndrome (A344A, S354C), and one new mutation for Jackson-Weiss syndrome (C342R). The W290G mutation was found in exon IIIa which is common to both alternatively spliced forms of FGFR2, BEK (expressed predominantly in primordial bones) and KGFR (expressed preferentially in epithelia). Atypical Crouzon syndrome features of epithelial-derived anal and/or external ear anomalies were present in the two affected family members with the mutation. This phenotype possibly reflects the expression of both mutant BEK and KGFR. In addition, the Jackson-Weiss syndrome mutation, C342R, in exon IIIc was observed previously in other craniosynostotic syndromes, Crouzon and Pfeiffer. These results underscore the allelic heterogeneity of these conditions and the complexity of the phenotypic consequences of FGFR2 mutations.

Alleles↗

Genetic heterogeneity among craniosynostosis syndromes: mapping the Saethre-Chotzen syndrome locus between D7S513 and D7S516 and exclusion of Jackson-Weiss and Crouzon syndrome loci from 7p.

Saethre-Chotzen, Crouzon, and Jackson-Weiss syndromes are craniosynostotic autosomal dominant conditions with a wide variability in expression. Saethre-Chotzen has been mapped to chromosome 7p by L. A. Brueton et al. (1992, J. Med. Genet. 29: 681-685), the Greig cephalopolysyndactyly gene was identified at 7p13 by A. Vortkamp et al. (1991, Nature 352: 539-540), and many cases of craniosynostosis have been associated with 7p deletions. We confirmed linkage of the Saethre-Chotzen syndrome locus to chromosome 7p. The tightest linkage was to locus D7S493 (Z = 5.04, theta = 0.00), and linkage and haplotype analyses refined the location of the gene to the region between D7S513 and D7S516. Jackson-Weiss and Crouzon syndrome loci were analyzed using markers spanning the entire 7p arm and were excluded, proving that they are nonallelic to Saethre-Chotzen, Greig cephalopolysyndactyly, and the del(7p) syndromes.

Abnormalities, Multiple↗

Fetal monitoring in perinatal sepsis.

To evaluate the utility of conventional electronic fetal monitoring in detection of established perinatal sepsis, we conducted a case-controlled study of fetal monitor results in 18 patients delivering newborns with sepsis. Eleven of the 18 newborns (61%) demonstrated clinically reassuring fetal heart rate patterns, not significantly different from controls (p = 0.80). No pattern predictive of presumed perinatal sepsis could be identified. Obstetric factors traditionally associated with increased risk of perinatal infection, such as long duration of labor, use of internal fetal monitoring, and increased number of vaginal examinations were not significantly different from controls. Preterm rupture of membranes greater than 24 hours occurred in less than 50% of the cases. Clinical diagnosis of chorioamnionitis was established in only one third of the patients who delivered newborns with sepsis. In this study, use of conventional electronic fetal monitoring did not accurately identify newborns with presumed intrauterine infection.

Adult↗