Thanos syndrome does not exist.
Explore the source record for details and available documents.
Biomedical subjects
Publications and source records attributed to M M Cohen.
Explore the source record for details and available documents.
Parents of children with holoprosencephaly often have been told that their children will die within days or weeks. When this does not happen, they are distrustful of the information they have received and want to know what they can really expect and how they can cope with the many problems these children have. We have recorded our experiences and gleanings from the literature with regard to survival and performance of these children. Survival data were obtained from 62 cases of alobar holoprosencephaly known to us or to our colleagues. Performance data were obtained on 35 survivors, by direct examination and/or detailed parent questionnaires and interviews.
Proteus syndrome is a complex disorder comprising malformations and overgrowth of multiple tissues. The disorder is highly variable and appears to affect patients in a mosaic manner. This intrinsic variability has led to diagnostic confusion associated with a dearth of longitudinal data on the natural history of Proteus syndrome. To clarify some of these issues, a workshop on Proteus syndrome was held in March 1998 at the National Institutes of Health, and participants developed recommendations for diagnostic criteria, differential diagnosis, and guidelines for the evaluation of patients. This is a review of those recommendations.
Robin sequence has been the subject of numerous general papers and has also been cited in specific syndrome articles. Evidence is provided that the condition is not only causally heterogeneous but also pathogenetically and phenotypically variable, necessitating the use of the terms "Robin sequences" and "Robin complexes."
Explore the source record for details and available documents.
Explore the source record for details and available documents.
BACKGROUND: Meta-analyses of randomized controlled trials suggest that elective induction of labour at 41 weeks' gestation, compared with expectant management with selective labour induction, is associated with fewer perinatal deaths and no increase in the cesarean section rate. The authors studied the changes over time in the rates of labour induction in post-term pregnancies in Canada and examined the effects on the rates of stillbirth and cesarean section. METHODS: Changes in the proportion of total births at 41 weeks' and at 42 or more weeks' gestation, and in the rate of stillbirths at 41 or more weeks' (versus 40 weeks') gestation in Canada between 1980 and 1995 were determined using data from Statistics Canada. Changes in the rates of labour induction and cesarean section were determined using data from hospital and provincial sources. RESULTS: There was a marked increase in the proportion of births at 41 weeks' gestation (from 11.9% in 1980 to 16.3% in 1995) and a marked decrease in the proportion at 42 or more weeks (from 7.1% in 1980 to 2.9% in 1995). The rate of stillbirths among deliveries at 41 or more weeks' gestation decreased significantly, from 2.8 per 1000 total births in 1980 to 0.9 per 1000 total births in 1995 (p < 0.001). The stillbirth rate also decreased significantly among births at 40 weeks' gestation, from 1.8 per 1000 total births in 1980 to 1.1 per 1000 total births in 1995 (p < 0.001). The magnitude of the decrease in the stillbirth rate at 41 or more weeks' gestation was greater than that at 40 weeks' gestation (p < 0.001). All hospital and provincial sources of data indicated that the rate of labour induction increased significantly between 1980 and 1995 among women delivering at 41 or more weeks' gestation. The associated changes in rates of cesarean section were variable. INTERPRETATION: Between 1980 and 1995 clinical practice for the management of post-term pregnancy changed in Canada. The increased rate of labour induction at 41 or more weeks' gestation may have contributed to the decreased stillbirth rate but it had no convincing influence either way on the cesarean section rate.
Explore the source record for details and available documents.
PURPOSE: To evaluate if anesthesia training and experience influenced chart completion and accuracy. METHODS: One hundred and twenty-four subjects, including medical students, anesthesia residents and community and university based clinical anesthesiologists, were given a standardized patient in a simulator environment and asked to conduct induction and maintenance of anaesthesia. Three critical events were introduced resulting in changes in BP, HR, PETCO2 and SpO2. Subjects were instructed to manage the patient and the anesthetic chart, as was their customary practice. Discrepancy, calculated as the difference between the actual and charted values divided by the actual physiological value was compared by level of training with a two-way repeated measures analysis of variance (ANOVA) for all four physiological variables. The completeness of charting, defined as at least one data point recorded for each of the four physiological variables of the three critical events, was compared across level of training, age of participants and number of years in practice. RESULTS: The overall completeness of charting remained low (< 37%) with no relationship based on the anesthesiologist's age, level of training or number of years in practice. There was discrepancy in charting for all physiological variables (HR, BP, PETCO2 and SpO2, P < 0.0001), with a marked difference in the degree of discrepancy within each level of training. Training resulted in no differences in charting discrepancy. CONCLUSION: Charting of data to the anesthetic record remained incomplete and inaccurate in all groups based on level of training, age and number of years in practice.
BACKGROUND: Hospitals struggle to support trauma care. Recent installation of cost accounting systems now provides information on actual costs for different categories of patients. This paper examines the cost of trauma care in an urban teaching hospital. METHODS: All patients entered into the hospital trauma registry for the period July 1, 1996, through June 30, 1997, were abstracted from the registry. These data were merged with a database of all admitted patients with an injury-compatible ICD-9 diagnostic code for the same time period that included cost and estimated revenue from the cost accounting system. Complete data were available for 667 patients and the remaining 96 were uninsured patients with missing cost data. RESULTS: The calculated cost of care for the 667 patients was $10,342,130; total expected revenue was $10,396,456; estimated net revenue for insured patients was $54,326. The estimated cost of care for the 96 uncompensated patients was $1,619,989. The hospital had positive net revenue for patients with length of stay of 7 days or less, but was unable to recoup costs for patients with a longer stay. Reimbursement exceeded hospital cost for blunt injuries, primarily motor vehicle crash victims, and for other injuries covered by fee-for-service insurers. Managed care plans and government-funded insurance did not reimburse sufficiently to cover hospital costs. CONCLUSIONS: These data confirm that earlier literature, based on charges and estimated costs, were correct in documenting a serious threat to the continuation of centers providing high volumes of trauma care.
To understand the molecular biology of the nevoid basal cell carcinoma syndrome, the hedgehog signaling network is explained. The syndrome is caused by mutations in patched, a tumor suppressor gene. A single point mutation in one patched allele may be responsible for the malformations found in the syndrome. Inactivation of both patched alleles results in the formation of tumors and cysts (basal cell carcinomas, odontogenic keratocysts, and medulloblastomas). Several new hypotheses are proposed to account for a minority of nevoid basal cell carcinoma syndrome patients. Evidence is provided to suggest that these hypotheses deserve to be investigated.
Although we would expect that the role of visible speech in multimodal speech perception would have the greatest relevance to individuals with hearing impairment, relatively few analytic studies have been done with these participants. Their adequate understanding of spoken language usually requires information from several modalities or other sources of information. The framework of the fuzzy logical model of perception (FLMP) is used to assess how individuals with hearing impairment evaluate and integrate multiple sources of information. Given this framework, a distinction can be made between information and information processing. Within this framework, we can ask what information differences and information-processing differences exist among individuals with normal hearing and those with hearing impairment. Four experimental studies from the literature are analyzed to address these questions. Test items are presented under both unimodal and bimodal conditions. Of central interest is the nature of the bimodal performance as a function of the unimodal performance. The findings show that, although information differences obviously exist across different populations, their information processing involved in pattern recognition appears to be the same and is well described by the FLMP.
BACKGROUND: The authors used a nursing task inventory system to assess nursing resources for patients with and without adverse postoperative events in the postanesthesia care unit (PACU). METHODS: Over 3 months, 2,031 patients were observed, and each task/activity related to direct patient care was recorded and assigned points according to the Project Research in Nursing (PRN) workload system. PRN values for each patient were merged with data from an anesthesia database containing demographics, anesthesia technique, and postoperative adverse events. Mean and median PRN points were determined by age, sex, duration of procedure, and mode of anesthesia for patients with and without adverse events in the PACU. Three theoretical models were developed to determine the effect of differing rates of adverse events on the requirements for nurses in the PACU. RESULTS: The median workload (PRN points) per patient was 31.0 (25th-75th percentile, 25-46). Median workload was 26 points for patients with no postoperative events and 155 for > or = six adverse events. Workload varied by type of postoperative event (e.g., unanticipated admission to the intensive care unit, median workload = 95; critical respiratory event = 54; and nausea/vomiting = 33). Monitored anesthesia care or general anesthesia with spontaneous ventilation used less resources compared with general anesthesia with mechanical ventilation. Modeling various scenarios (controlling for types of patients) showed that adverse events increased the number of nursing personnel required in the PACU. CONCLUSIONS: Nursing care documentation based on requirements for individual patients demonstrates that the rate of postoperative adverse events affects the amount of nursing resources needed in the PACU.
OBJECTIVE: Many surgeons continue to place a prophylactic drain in the pelvis after completion of a colorectal anastomosis, despite considerable evidence that this practice may not be useful. The authors conducted a systematic review and meta-analysis of randomized controlled trials to determine if placement of a drain after a colonic or rectal anastomosis can reduce the rate of complications. METHODS: A search of the Medline database of English-language articles published from 1987 to 1997 was conducted using the terms "colon," "rectum," "postoperative complications," "surgical anastomosis," and "drainage." A manual search was also conducted. Four randomized controlled trials, including a total of 414 patients, were identified that compared the routine use of drainage of colonic and/or rectal anastomoses to no drainage. Two reviewers assessed the trials independently. Trial quality was critically appraised using a previously published scale, and data on mortality, clinical and radiologic anastomotic leakage rate, wound infection rate, and major complication rate were extracted. RESULTS: The overall quality of the studies was poor. Use of a drain did not significantly affect the rate of any of the outcomes examined, although the power of this analysis to exclude any difference was low. Comparison of pooled results revealed an odds ratio for clinical leak of 1.5 favoring the control (no drain) group. Of the 20 observed leaks among all four studies that occurred in a patient with a drain in place, in only one case (5%) did pus or enteric content actually appear in the effluent of the existing drain. CONCLUSIONS: Any significant benefit of routine drainage of colon and rectal anastomoses in reducing the rate of anastomotic leakage or other surgical complications can be excluded with more confidence based on pooled data than by the individual trials alone. Additional well-designed randomized controlled trials would further reinforce this conclusion.
BACKGROUND: To determine the impact of a dedicated trauma service on cost and quality of care in an urban teaching hospital, a before-and-after study was designed. The key elements of the trauma service were dedicated in-house trauma attending surgeons and residents, and continuity and integration of trauma care. METHODS: Injury Severity Scores and probabilities of survival for each patient were calculated from the hospital International Classification of Diseases, Ninth Revision, codes, and individual patient costs were estimated from charges using the Medicare Cost Report. RESULTS: The trauma service resulted in a significant increase in the severity of injuries. There was a highly significant (p<0.001) increase in the mean probability of death (from 0.16 to 0.21). There was no change in actual mortality. Although the mean cost of care increased by 16.6%, there were small reductions in the cost of care of the most severely injured patients. CONCLUSION: A dedicated trauma service has a positive impact on the quality of care.
OBJECTIVE: Unilateral nostril agenesis together with ipsilateral alterations of the eye, ear, and face make up a spectrum of anomalies. The aim of this study is to report a case in a Japanese girl, 14 years, 5 months of age. Cephalometric analysis is provided, and orthodontic treatment is discussed. DESIGN: Lateral and frontal cephalograms were compared to a Japanese control group. Outcome of the orthodontic treatment was evaluated by comparing cephalograms taken before and after orthodontic treatment. RESULTS: The lateral cephalometric analysis showed a severely hypoplastic maxilla in both sagittal and vertical dimensions, coupled with a decreased posterior cranial base. The mandibular rami were asymmetric. The frontal cephalogram showed decreased cranial width and maxillary alveolar width, together with an increased interorbital distance. CONCLUSIONS: Serial lateral cephalograms during the orthodontic treatment from the age of 14 to 20 years demonstrated no significant maxillary growth and some mandibular growth, coupled with labial tipping of the maxillary central incisors.
OBJECTIVE: To critically assess the evidence that appendiceal perforation is a risk factor for subsequent tubal infertility or ectopic pregnancy. DATA SOURCES: Epidemiologic studies investigating the relationship between appendectomy and infertility or ectopic pregnancy were identified by searching the MEDLINE database from 1966 to 1997. Appropriate citations were also extracted from a manual search of the bibliographies of selected papers. STUDY SELECTION: Twenty-three articles were retrieved. Only 4 presented original data including comparisons to a nonexposed control group and they form the basis for this study. DATA EXTRACTION: Because the raw data or specific techniques of data analysis were not always explicitly described, indices of risk for exposure were extracted from the data as presented and were analysed without attempting to convert them to a common measure. DATA SYNTHESIS: Articles were assessed according to the criteria of the Evidence-Based Medicine Working Group for evaluating articles on harm. Review of the literature yielded estimates of the risk of adverse fertility outcomes ranging from 1.6 (95% confidence interval [CI] 1.1 to 2.5) for ectopic pregnancy after an appendectomy to 4.8 (95% CI 1.5 to 14.9) for tubal infertility from perforation of the appendix. Recall bias, and poor adjustment for confounding variables in some reports, weakened the validity of the studies. CONCLUSIONS: The methodologic weaknesses of the studies do not permit acceptance of increased risk of tubal pregnancy or infertility as a consequence of perforation of the appendix, so a causal relationship cannot be supported by the data currently available. Only a well-designed case-control study with unbiased ascertainment of exposure and adjustment for confounding variables will provide a definitive answer.
In this paper, the etiology of monostotic fibrous dysplasia and McCune-Albright syndrome is explained. Both monostotic fibrous dysplasia and McCune-Albright syndrome are sporadically occurring disorders in which a mutation in the GNAS1 gene occurs postzygotically in a somatic cell. All cells descended from the mutated cell can manifest features of McCune-Albright syndrome or fibrous dysplasia. Cells descended from non-mutated cells develop into normal tissues. Thus, the clinical pattern is variable in distribution and appearance. More generalized vs more localized expression depend on (a) how small or how large the cell mass is during embryogenesis when the mutation occurs and (b) where in the cell mass the mutation occurs. Topics discussed include G proteins and their receptors, cycling of stimulatory G protein between active and inactive forms, and specific mutations in GNAS1. We also discuss four possibilities: (a) Are there masked mutations? (b) Are there effects of imprinting? (c) Are there non-classical mutations? and (d) Is fibrous dysplasia a neoplasm?