A balanced reciprocal translocation in a case of hypomelanosis of Ito with confirmation of mosaicism using buccal cell interphase FISH.
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Child↗
Biomedical subjects
E Grace
Publications and source records attributed to E Grace.
Economic evaluation of Helicobacter pylori eradication in the CADET-Hp randomized controlled trial of H. pylori-positive primary care patients with uninvestigated dyspepsia.
BACKGROUND: Adult Helicobacter pylori-positive patients by 13C-urea breath test with uninvestigated dyspepsia symptoms were randomized to 1-week eradication treatment with omeprazole, metronidazole and clarithromycin (OMC) vs. omeprazole and placebo antimicrobials (OPP) in the Canadian Adult Dyspepsia Empiric Treatment-H. pylori-positive (CADET-Hp) study. AIM: To perform an economic evaluation of this 1-year study. METHODS: Following blind eradication treatment, family practitioners managed patients according to their usual practices. Health resource utilization information was collected prospectively. From the mean costs of the health resources consumed and the treatment outcomes, the incremental cost-effectiveness ratios and incremental net benefits of eradication treatment vs. OPP were determined. RESULTS: Eradication therapy significantly improved dyspepsia symptoms (treatment success: OMC, 50%; OPP, 36%; P = 0.02). The incremental cost-effectiveness ratio of OMC vs. OPP was - 387 Canadian dollars (CAD$) per treatment success (90% CI, - CAD$1707, CAD$607), indicating a lower cost with treatment success. The incremental net benefit analysis showed that H. pylori eradication was cost-effective if the willingness-to-pay value exceeded a nominal figure of CAD$100 from a health service perspective or CAD$607 from the societal perspective. CONCLUSION: In uninvestigated patients presenting with dyspepsia at the primary care level, eradication of H. pylori in those who are H. pylori positive leads to a cost-effective improvement in dyspepsia symptoms compared with a strategy of not eradicating H. pylori in these patients.
Adolescent↗
Neural substrates of anorexia nervosa: a behavioral challenge study with positron emission tomography.
OBJECTIVE: To delineate functional brain abnormalities associated with anorexia nervosa (AN). STUDY DESIGN: Positron emission tomographic measurements of regional cerebral blood flow (rCBF) were performed on 8 female patients with AN and 8 healthy female control subjects during exposure to 3 types of stimuli: high-calorie foods, low-calorie foods, and non-food items. Heart rate and internal state analog scale scores were also obtained. Stereotactic transformation and statistical parametric mapping techniques were used to analyze imaging data. RESULTS: During the high-calorie condition, control subjects reported a significant desire to eat, whereas subjects with AN reported elevated anxiety and exhibited increases in heart rate. Patients with AN had elevated bilateral medial temporal lobe rCBF compared with control subjects. Planned comparisons for group-by-condition interactions demonstrated greater activation within left occipital cortex and right temporo-occipital cortex for the high-calorie versus low-calorie contrast in patients with AN compared with control subjects. CONCLUSIONS: Our finding of elevated rCBF within bilateral medial temporal lobes is similar to published results in patients with psychotic disorders and may be related to the body image distortion common to AN. The high-calorie food phobia exhibited by patients with AN appears to be associated with exaggerated responses in visual association cortex, as has been previously observed in studies of specific phobias.
Adult↗
Revisiting the attitudes of dental faculty toward individuals with AIDS.
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Acquired Immunodeficiency Syndrome↗
Neuroanatomy of human appetitive function: A positron emission tomography investigation.
OBJECTIVE: The mediating neuroanatomy of human appetitive function is poorly understood. A state induction paradigm was employed, in conjunction with positron emission tomography, to test the hypothesis that limbic/paralimbic regions respond to the desirability of food stimuli. METHODS: Eight normal subjects were studied during each of three conditions, involving visual exposure to high-caloric food, low-caloric food, and nonfood stimuli. Subjective indices of hunger were measured via analog scales. RESULTS: Planned contrasts demonstrated significant increases in desire to eat and decreases in left temporoinsular cortical blood flow during the high-caloric versus control conditions. DISCUSSION: Results implicate the temporo-insular cortex in normal appetitive function, suggesting that activity within this region is associated with the desirability or valence of food stimuli, prior to ingestion. These data will provide a broad foundation for future studies of patients with eating disorders.
Adult↗
Bullous ichthyosiform erythroderma, developmental delay, aortic and pulmonary stenosis in association with a FRA12A.
We present an 11-year-old female with bullous ichthyosiform erythroderma (BIE), learning disability, patent ductus arteriosus and mild stenosis of the aortic and pulmonary arteries. Chromosome analysis showed the expression of the rare folate-sensitive fragile site FRA12A at 12q13 in 8/20 (40%) of blood lymphocytes cultured in folate-deficient medium in the presence of trimethoprim. Her mother and maternal grandmother are phenotypically normal, but her mother shows expression of the same fragile site in 4/20 (20%) of cells cultured under the same conditions. Lymphocytes from the grandmother only showed expression of the fragile site when cultured in the presence of methotrexate in folate deficient medium. Interestingly, two genes (keratin 1 and keratin 2e) which are known to cause BIE map to 12q13. Molecular data is presented excluding three candidate (CCG)n repeats within keratin 1 gene. We present a review of previously reported FRA12A cases and discuss possible molecular explanations for the clinical findings in this patient.
Aortic Valve Stenosis↗
A revisitation of dental student's attitudes toward individuals with AIDS.
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Acquired Immunodeficiency Syndrome↗
Endocrinologic and psychological effects of short-term dexamethasone in anorexia nervosa.
Patients with anorexia nervosa (AN) have hyperactivity of their hypothalamic-pituitary-adrenal (HPA) axis, sometimes accompanied by elevations of cortisol. We examined whether the normal effects of short-term dexamethasone treatment upon HPA axis suppression and appetite stimulation are observed in these patients. Five young women with AN and ten healthy female controls received one week of high-dose oral dexamethasone (2 mg/m2/d) preceded and followed by hormonal evaluation of sensitivity to glucocorticoids and psychological assessments. No differences in hormone levels of the HPA axis were observed between the two groups and control groups at baseline, after dexamethasone suppression, or following ACTH stimulation testing. However, fasting insulin levels were significantly lower in the AN group, both before and after dexamethasone therapy and their serum leptin levels were also significantly lower. The AN group had significantly lower scores on the Anorexia Nervosa Subtest and the Beck Depression Inventory after dexamethasone compared to controls. On daily analog scales, AN patients had higher anxiety scores while on dexamethasone. Normal sensitivity to glucocorticoids was observed in all parameters examined except for mild abnormalities in pancreatic beta-cell function. These data suggest that AN may represent a state of partial glucocorticoid resistance, as in other states of restricted food intake. Furthermore, these pilot data, including the effects of dexamethasone upon psychological outlook in AN, suggest that glucocorticoids are not an effective therapy for these patients.
Adolescent↗
Changes in bone turnover markers and menstrual function after short-term oral DHEA in young women with anorexia nervosa.
Bone loss is a serious consequence of anorexia nervosa (AN). Subnormal levels of serum dehydroepiandrosterone (DHEA) are seen in patients with AN and may be causally linked to their low bone density. We hypothesized that oral DHEA would decrease markers of bone resorption (urinary N-telopeptides [NTx]), and increase markers of bone formation (serum bone-specific alkaline phosphatase and osteocalcin [OC]). Fifteen young women (age 15-22 years) with AN were enrolled in a 3-month, randomized, double-blinded trial of 50, 100, or 200 mg of daily micronized DHEA. Blood and urinary levels of adrenal and gonadal steroids and bone turnover markers were measured. No adverse clinical side effects of DHEA were noted, and a 50 mg daily dose restored physiologic hormonal levels. At 3 months, NTx levels had decreased significantly in both the 50 mg (p = 0.018) and the 200 mg (p = 0.016) subgroups. OC levels simultaneously increased within treatment groups over time (p = 0.002). Eight out of 15 (53%) subjects had at least one menstrual cycle while on therapy. Short-term DHEA was well-tolerated and appears to normalize bone turnover in young women with AN. Resumption of menses in over half of subjects suggests that DHEA therapy may also lead to estradiol levels sufficient to stimulate the endometrium in this group of patients.
Administration, Oral↗
Beckwith-Wiedemann syndrome in a child with chromosome 18q deletion.
Molecular genetic investigation of a female infant with Beckwith-Wiedemann syndrome (BWS) showed loss of IGF2 imprinting but no evidence of uniparental disomy. In addition, a deletion of chromosome 18q22.1 was identified in this infant without clinical features of 18q-syndrome (microcephaly, short stature, hypotonia). The association of a chromosome 18 deletion and BWS may be coincidental or may indicate the location of a trans activating regulator element for maintenance of IGF2 imprinting.
Beckwith-Wiedemann Syndrome↗
Quality of Life in Reflux and Dyspepsia patients. Psychometric documentation of a new disease-specific questionnaire (QOLRAD).
OBJECTIVE: To develop a disease-specific QOL instrument (QOLRAD) addressing patient concerns in gastroesophageal reflux disease (GERD) and dyspepsia. Patients. 759 male (45%) and female (55%) patients with a mean age of 48.4 years (sd 15.2) were used in the psychometric evaluation. MAIN OUTCOME MEASURES: A pilot version of QOLRAD, the Gastrointestinal Symptoms Rating Scale (GSRS) and the SF-36 were completed prior to endoscopy. Items with a high ceiling effect, items measuring a different construct, i.e. with a low squared multiple correlation (R < 0.5) with the other items, items that showed redundancy by a high correlation (>0.80) with another item were removed. A confirmatory factor analysis was also performed. RESULTS: The final questionnaire included 25 items depicting problems with emotions, vitality, sleep, eating/drinking, and physical/social functioning. The internal consistency reliability was high (alpha value overall 0.97, dimensions 0.89-94). Construct validity, i.e. the associations between similar constructs in the QOLRAD, the SF-36 and the GSRS scores was confirmed. Pain and symptom severity were markers of impaired QOL. The impact on health-related QOL was similar across the functional gastrointestinal disorders with the exception of patients with a normal endoscopy, who did slightly worse. CONCLUSION: The QOLRAD is a short and user-friendly instrument with excellent psychometric properties. Its responsiveness to change in (AVMC1) clinical trials is currently being explored.
Adolescent↗
Genomic instability associated with limb defects: case report and review of the literature.
We report a child in whom we observed markedly increased genome-wide spontaneous chromosomal breakage in both leucocytes and fibroblasts associated with severe growth retardation, radial aplasia, leucopenia, mild hydrocephalus and an unusual trichodystrophy. Exposure to DNA cross-linking agents diepoxybutane, mitomycin-C and mustine hydrochloride in this case did not result in the increased chromosome breakage seen in Fanconi anaemia. It may be that this child has a defect in postreplicative DNA repair interacting with the protein components deficient in FA.
Chromosome Aberrations↗
Interaction between cyclosporin A and nonsteroidal antiinflammatory drugs.
OBJECTIVE: Although cyclosporin A (CyA) has been shown in a series of controlled trials to be of benefit to patients with rheumatoid arthritis (RA), the majority of patients continue to require nonsteroidal antiinflammatory drugs (NSAID) for relief of joint pain and stiffness. Our aim was to determine whether there is a clinically important difference in calculated creatinine clearance when CyA is given concurrently with NSAID with high cyclooxygenase activity (indomethacin and ketoprofen) compared with sulindac, which has been claimed to have fewer renal effects than other NSAID, and compared with a simple analgesic, paracetamol. METHODS: Patients with RA started 2.5 mg/kg CyA/day and dosage was increased cautiously to 5 mg/kg/day or less if the serum creatinine rose by > or = 30% above baseline. The mean stabilized dose was 171.43 +/- 48.94 mg/day. Once CyA dose was stabilized, patients were allocated in random order to possible sequences of 4 week periods of acetaminophen, indomethacin, ketoprofen, and sulindac. Monitoring of cyclosporine levels, nephrotoxicity, and hepatoxicity, and adjustment of doses were by an "unblinded" clinician not in direct contact with study patients. All other assessments were made by a "blinded" clinician. Patients were instructed to take the identical appearing gelatin capsules qid. The multiple crossover design was analyzed using analysis of variance procedures for repeated measures. RESULTS: 35 patients were enrolled, of whom 32 patients completed the acetaminophen and at least one course of NSAID. The calculated creatinine clearance was increased by 2.79 ml/min (3.5%) on average for acetaminophen versus all 3 NSAID (6% for indomethacin, 2.3% for ketoprofen, 2.6% for sulindac). The study had adequate power to detect a true difference of more than 10% in mean creatinine clearance for each major comparison. CONCLUSION: NSAID studied did not produce a clinically important difference in the calculated creatinine clearance in these patients-the difference with acetaminophen was modest and not of clinical significance. There is no evidence that any of the 3 NSAID studied have an advantage or disadvantage. It seems reasonable to allow patients to continue an NSAID of their or their clinician's choice.
Acetaminophen↗
At what age should a virginal adolescent have her first pelvic examination?
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Adolescent↗
Dentistry, stress, and substance abuse.
Dentists have to deal with many significant stressors in their personal and professional lives. It is important for dentists to learn to cope and deal with these stressors and their effects. This paper reviews the nature and causes of addictions, the relationship between addiction and stress, and methods to organize and reduce stress in work environments.
Adaptation, Psychological↗
ICF syndrome (immunodeficiency, centromeric instability and facial anomalies): investigation of heterochromatin abnormalities and review of clinical outcome.
A further patient with the ICF syndrome (immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9 and 16 and facial anomalies) is described. This case is the second to be reported with consanguinity of the parents. This lends support to the theory of autosomal recessive inheritance. The features of the 15 published cases are reviewed. The clinical and cytogenetic characteristics of the syndrome are discussed, and new evidence provided as to the role of centromeres and centric heterochromatin in the production of chromosome aberrations. Correspondence with other authors has made possible a review of the clinical outcome in this condition.
Abnormalities, Multiple↗
Clinical and molecular characterization of patients with distal 11q deletions.
Jacobsen syndrome is caused by segmental aneusomy for the distal end of the long arm of chromosome 11. Typical features include mild to moderate psychomotor retardation, trigonocephaly, facial dysmorphism, cardiac defects, and thrombocytopenia, though none of these features are invariably present. To define the critical regions responsible for these abnormalities, we studied 17 individuals with de novo terminal deletions of 11q. The patients were characterized in a loss-of-heterozygosity analysis using polymorphic dinucleotide repeats. The breakpoints in the complete two-generation families were localized with an average resolution of 3.9 cM. Eight patients with the largest deletions extending from 11q23.3 to 11qter have breakpoints, between D11S924 and D11S1341. This cytogenetic region accounts for the majority of 11q- patients and may be related to the FRA11B fragile site in 11q23.3. One patient with a small terminal deletion distal to D11S1351 had facial dysmorphism, cardiac defects, and thrombocytopenia, suggesting that the genes responsible for these features may lie distal to D11S1351. Twelve of 15 patients with deletion breakpoints as far distal as D11S1345 had trigonocephaly, while patients with deletions distal to D11S912 did not, suggesting that, if hemizygosity for a single gene is responsible for this dysmorphic feature, the gene may lie distal to D11S1345 and proximal to D11S912.
Abnormalities, Multiple↗
Hymenal findings in adolescent women: impact of tampon use and consensual sexual activity.
We undertook a prospective study of 300 postmenarcheal female subjects (median age, 18.0 years) to examine (1) the relation of tampon use, sports participation, prior gynecologic examination, and consensual sexual activity to hymenal anatomy, (2) the factors leading to choice of tampons by girls not sexually active, and (3) factors related to ease of gynecologic examination. The sample included 100 subjects in group 1, who denied sexual intercourse and used only pads for menses; 100 subjects in group 2, who denied sexual intercourse and had used tampons; and 100 subjects in group 3, who gave a history of sexual intercourse. Sexually active subjects (81%) were significantly more likely than tampon users and pad users to have "complete clefts" in the lower hymen between the 2 o'clock and 10 o'clock positions (p < 0.001); tampon users were not significantly different from pad users (11% vs 5%). In subjects who were not sexually active, the presence of these complete clefts was not related to participation in sports or to prior pelvic examination. Although median hymenal opening diameter differed in the three groups (1.2 cm for group 1 vs 1.5 cm for group 2 vs 2.5 cm for group 3; p < 0.0001), the ranges of measurements were wide. Tampon users were significantly more likely than pad users to have mothers and friends, but not sisters, who had a favorable attitude toward tampon use. The best predictors of tampon use in a multivariate model were a favorable maternal attitude (odds ratio (OR), 5.3; 95% confidence interval (CI), 2.4, 12.1) and friends' use of tampons (OR 7.9; 95% CI 3.5, 18.1). Only 26% of speculum examinations in pad users were rated as easy compared with 56% of examinations in tampon users and 81% in sexually active young women (p < 0.001). The best predictors of ease of speculum examination were sexual activity (OR 15.9; 95% CI 1.9, 135.3) and tampon use (OR 3.6; 95% CI 1.0, 12.7). This large sample should provide useful data for physicians who testify in sexual assault cases and gives new information on the predictors of tampon use and ease of gynecologic examination in young women.
Adolescent↗