Confirmation of an oroacral pattern of anomalies: a disruption?
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Fingers↗
Biomedical subjects
M M Cohen
Publications and source records attributed to M M Cohen.
Bannayan-Riley-Ruvalcaba syndrome.
Here we report on 12 affected members of a family with Bannayan-Riley-Ruvalcaba syndrome. We present clinical evidence of overlap between Bannayan-Zonana syndrome. Riley-Smith syndrome, and Ruvalcaba-Myhre syndrome in this autosomal dominantly inherited condition. We expand the phenotypic spectrum to include Hashimoto thyroiditis, which occurred in 7 of our cases. Finally, we discuss the relationship between the syndrome and juvenile polyposis of infancy.
Adolescent↗
Beare-Stevenson cutis gyrata syndrome.
Beare-Stevenson cutis gyrata syndrome consists of skin furrows of corrugated appearance, acanthosis nigricans, craniofacial anomalies, particularly craniosynostosis and ear defects, anogenital anomalies, skin tags, and prominent umbilical stump. Four cases of this striking syndrome are reported. Together with two previously reported cases, the syndrome is delineated from the six known cases. Cutis gyrata variably affects the scalp, forehead, face, preauricular area, neck, trunk, hands, and feet. Craniosynostosis is present in four cases, with cloverleaf skull in three of these. Intrauterine growth has been normal in all cases. Performance and life expectation appear to be related to the presence or absence of cloverleaf skull. All cases observed to date have been sporadic. Increased paternal age suggests the possibility of an autosomal dominant mutation.
Abnormalities, Multiple↗
Upper and lower airway compromise in the Apert syndrome.
Both upper and lower airway compromise may be responsible for early death in some patients with the Apert syndrome. We report on two and review six cases with complete or partial cartilage sleeve abnormalities of the trachea. Possible mechanisms include tracheal stenosis and/or lack of tracheal distensibility which may result in respiratory inefficiency, inability to clear secretions, and/or increased liability to surface injury from tracheal suctioning. Upper airway compromise, consisting of obstructive sleep apnea and cor pulmonale, may result from reduced nasopharyngeal and oropharyngeal dimensions in the Apert craniofacial configuration.
Acrocephalosyndactylia↗
Cervical spine in the Apert syndrome.
Radiographs of the cervical spine--in many cases longitudinal--were available for study in 68 cases of Apert syndrome. Autopsy material was available in one of these cases, and a 3-dimensional reconstruction from a CT scan was also studied in one case. Variable degrees of fusion were observed, involving the articular facets, the neural arch or transverse processes, or block fusion of the vertebral bodies. Ossification may not always be evident in some early radiographs. However, early radiographic signs of impending fusion may be irregularity in vertical orientation of the vertebral bodies and narrowing of the involved intervertebral spaces. Cervical fusions occurred in 68%, single fusions being found in 37%, and multiple fusions in 31%. C5-C6 fusion was most common, alone or in combination with other fusions. In contrast, cervical fusions are known to occur in 25% of Crouzon patients, most commonly involving C2-C3 only. It appears that when fusions are present, C5-C6 involvement in the Apert syndrome and C2-C3 involvement in the Crouzon syndrome separate the 2 conditions in most cases. Because cervical anomalies may complicate an already compromised airway in any form of acrocephalosyndactyly, it is imperative to initiate radiographic study of the cervical spine before undertaking anesthesia for surgery.
Acrocephalosyndactylia↗
Perception and action in altered gravity.
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Aircraft↗
Optical and somesthetic biases of postural orientation in the pitch dimension.
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Darkness↗
Birth prevalence study of the Apert syndrome.
Estimates of the Apert syndrome birth prevalence and the mutation rate are reported for Washington State, Nebraska, Denmark, Italy, Spain, Atlanta, and Northern California. Data were pooled to increase the number of Apert births (n = 57) and produce a more stable birth prevalence estimate. Birth prevalence of the Apert syndrome was calculated to be approximately 15.5/1,000,000 births, which is twice the rate determined in earlier studies. The major reason appears to be incomplete ascertainment in the earlier studies. The similarity of the point estimates and the narrow bounds of the confidence limits in the present study suggest that the birth prevalence of the Apert syndrome over different populations is fairly uniform. The mutation rate was calculated to be 7.8 x 10(-6) per gene per generation. Apert syndrome accounts for about 4.5% of all cases of craniosynostosis. The mortality rate appears to be increased compared to that experienced in the general population; however, further study of the problem is necessary.
Acrocephalosyndactylia↗
Laparoscopic evaluation of tangential abdominal gunshot wounds.
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Abdominal Injuries↗
Development of a computerized database for the study of anaesthesia care.
To record, tabulate and report problems associated with anaesthesia, we have developed an information collection system and computer software to follow all patients attended by an anaesthetist at a teaching hospital in Canada. For the last 15 mo, data for 17,000 patients have been collected and the system is ongoing. Data collection is from three sources: carbonless copies of the handwritten Operating Room (OR) and Post Anaesthetic Care Unit (PACU) records, other hospital databases, and postoperative visits. Adverse events (observations which differ from specific physiological variables, or require an intervention and do not normally occur during the routine conduct of anaesthesia), are defined directly on each OR and PACU record. These events are recorded when they occur by the attending anaesthetist or the PACU nurse. All data are verified by a research nurse and an anaesthetist. Computer software, developed from DBase IV, is used to track 95 individual items on preoperative status and anaesthetic technique and another possible 1,450 selections for drugs, physicians, airways, surgical procedures and events for each patient. Data are analyzed with SAS software and reports generated to link the casemix and process with outcome. Comparison of data entered into the computer programme to a retrospective chart review revealed discrepancies of less than 0.5%. Collection, verification and computer entry takes five minutes per patient and the on-going cost is estimated at $4 per patient record. Analysis of the information collected in this database has been useful for research of adverse outcome following anaesthesia, resident expertise profiles, and the administrative management of an anaesthesia department.
Anesthesia Department, Hospital↗
Laparoscopic cholecystectomy: the anaesthetist's point of view.
Although the surgical advantages of laparoscopic cholecystectomy (LC) have been reported, the anaesthetic problems associated with this new technique have not been well described. For the first 101 patients undergoing laparoscopic cholecystectomy at our institution, we prospectively documented intraoperative critical observations and adverse outcomes in the PACU (Post-Anaesthetic Care Unit). In order to put the magnitude of these problems into perspective, we compared, in an identical manner, the anaesthetic management and outcomes of two more familiar surgical groups, cholecystectomy by laparotomy (C), and laparoscopy for gynaecological examination (LG). For this new procedure LC, intraoperative hypotension (12.9%), and PACU hypothermia (31.4%), nausea and vomiting (12.9%) and desaturation (10.9%) were common but excessive pain (4.0%) was rare. Patients undergoing C, who were older and less healthy, tended to have fewer incidents of OR hypotension (3.4%) but in the PACU experienced more desaturation (25.9%) and excessive pain (12.9%) (P < or = 0.05). The younger and healthier LG group had fewer problems, less OR hypotension (0.4%), and less PACU nausea and vomiting (5.7%) and desaturation (1.3%) (P < or = 0.05). However, the LG group had a similar incidence of excessive pain (4.4%). We have documented considerable postoperative anaesthetic benefits for patients undergoing laparoscopic cholecystectomy compared with conventional cholecystectomy. However, there is still considerable perioperative morbidity compared with gynaecological laparoscopies. Now that specific problems have been identified, they may be amenable to specific anaesthetic interventions.
Age Factors↗
The Canadian four-centre study of anaesthetic outcomes: I. Description of methods and populations.
The objectives of this study were first to develop and institute a methodology for the study of anaesthetic outcome for parallel use in four teaching hospitals in Canada and second, to compare rates of morbidity and mortality associated with anaesthesia between the four centres. The basic design of the study was occurrence screening with anaesthetists entering data on patient demographics, anaesthetic and surgical factors. Research nurses reviewed anaesthetic records and hospital charts and interviewed patients postoperatively. Data on 37,665 anaesthetics were collected during 1988-89 in the four teaching centres. There were major differences found across the hospitals, particularly with regard to volume, patient case-mix, anaesthetic drugs and monitoring used. The use of parallel training, repeated consultations and use of rounds and inservices contributed to the reliability and validity of the data collection. We conclude that outcome surveillance can be instituted in different hospital Departments of Anaesthesia with sufficient confidence to form the basis of comparison of anaesthetic outcome.
Anesthesia↗
The Canadian four-centre study of anaesthetic outcomes: II. Can outcomes be used to assess the quality of anaesthesia care?
Since anaesthesia, unlike medical or surgical specialties, does not constitute treatment, this study sought to determine if methods used to assess medical or surgical outcomes (that is the determination of adverse outcome) are applicable to anaesthesia. Anaesthetists collected information on patient, surgical and anaesthetic factors while data on recovery room and postoperative events were evaluated by research nurses. Data on 27,184 inpatients were collected and the analysis of outcomes determined for the intraoperative, post-anaesthetic care unit and postoperative time periods. Logistic regression was used to control for differences in patient populations across the four hospitals. In addition, a random selection of 115 major events was classified by a panel of anaesthetists into anaesthesia, surgical and patient-disease contributions. Across the three time periods, large variations in minor outcomes were found across the four hospitals; these variations ranged from two- to five-fold after case-mix adjustment (age, physical status, sex, emergency versus elective and length of anaesthesia). The rates of major events and deaths were similar across three hospitals; one hospital had a lower mortality rate (P less than 0.001) but had a higher rate of all major events (P less than 0.0001). Of major events assessed by physician panels, 18.3% had some anaesthetic involvement and no deaths were attributable partially or wholly to anaesthesia. Possible reasons to account for these variations in outcome include compliance in recording events, inadequate case-mix adjustment, differences in interpretation of the variables (despite guidelines) and institutional differences in monitoring, charting and observation protocols. The authors conclude that measuring quality of care in anaesthesia by comparing major outcomes is unsatisfactory since the contribution of anaesthesia to perioperative outcomes is uncertain and that variations may be explained by institutional differences which are beyond the control of the anaesthetist. It is suggested that minor adverse events, particularly those of concern to the patient, should be the next focus for quality improvement in anaesthesia.
Anesthesia↗
The Canadian four-centre study of anaesthetic outcomes: III. Are anaesthetic complications predictable in day surgical practice?
To understand better the factors important to the safety of anaesthesia provided for day surgical procedures, we analyzed the intraoperative and immediate postoperative course of patients at four Canadian teaching hospitals' day treatment centres. After excluding those who received only monitored anaesthesia care, there were 6,914 adult (non-obstetrical) patients seen over a twelve-month period in 1988-89. The rate of adverse outcome consequent to their care was identified by a comprehensive surveillance system which included review of anaesthetic records (four hospitals) and follow-up telephone calls (two hospitals). The relationship between adverse events and preoperative factors was determined by using a multiple logistic regression analysis that included age, sex, duration of the procedure and the hospital care. There were no deaths during the study period and major morbid events were infrequent. Patient preoperative disease was predictive of some intraoperative events relating to the same organ system, but not to events in the PACU. Some unexpected relationships emerged including preoperative hypertension being related to a greater risk of difficult intubation, and neurological disease to perioperative cardiac abnormalities. Patients judged obese, or inadequately fasted, were found to experience a greater rate of recovery problems as well as discomfort. While the low response rate (36%) to the telephone interviews created a sampling bias, the high rate of patient dissatisfaction among those reached is disconcerting. We conclude that day surgical patients with preoperative medical conditions, even when optimally managed, are at higher risk for adverse events in the perioperative period.
Adult↗
New indirect method for estimating the birth prevalence of the Apert syndrome.
An indirect method for estimating the birth prevalence of the Apert syndrome is presented. The fraction of Apert syndrome patients in large clinical surveys of all cases of craniosynostosis is calculated and the fractional component obtained is multiplied by the known birth prevalence of craniosynostosis in general. Apert syndrome makes up approximately 4% of all cases of craniosynostosis. Using a weighted average estimate, birth prevalence was calculated to be 13.7/1,000,000. The results of the indirect method compare favorably with those obtained by the direct method. Nevertheless, because the indirect method is based on a number of assumptions that are easily violated, we cannot recommend its general use except under special conditions.
Acrocephalosyndactylia↗
Discovery and expository methods in teaching visual consonant and word identification.
An experiment was conducted to examine the processes involved in lipreading as well as to investigate an optimal approach to teaching lipreading skill. We compared discovery and expository methods of learning to lip-read. Twenty-six college students with normal hearing were trained over 3 days to lip-read consonant-vowel (CV) syllables. The training material consisted of a prerecorded videotape of four different talkers. The task was a forced-choice procedure with feedback. Subjects learned with training, but there was no difference between the two learning methods. As a retention measure, subjects returned 4 weeks later and repeated the training. There were significant savings of the original learning. Three weeks after the retention phase, subjects were tested with a 10-item forced-choice monosyllabic word task. Those subjects who had extensive training on CV syllables did no better on identifying the monosyllabic words than did a control group of 9 subjects with no training. Nevertheless, performance for all three groups (discovery, expository, and no training) improved during training in the word identification task.
Adolescent↗
A comparison of outcome and cost of open vs. laparoscopic cholecystectomy.
One hundred elective completed laparoscopic cholecystectomies performed during the period July 1990 to June 1991 were prospectively analyzed for age, sex, and the study variables. A control group of 100 age- and sex-matched patients undergoing elective open cholecystectomy in the year prior to the advent of laparoscopic cholecystectomy was retrospectively analyzed. Both groups were comparable with regard to height, weight, severity of disease, and co-morbidity. The mean operative time for the laparoscopic cholecystectomy group was 107 min vs. 72 min for the open cholecystectomy group. Other significant differences included the use of cholangiography (24% vs. 93%), placement of drains (4% vs. 27%), and morbidity (3% vs. 7%). There was no mortality in either group. The mean length of hospital stay was 1.6 days for the laparoscopic cholecystectomy group vs. 4.8 days in the open cholecystectomy group. The resultant difference in hospital charges to the patient favored laparoscopic cholecystectomy with a mean charge of $6471 vs. $8896 for the open cholecystectomy group. The results of this study support the conclusions that laparoscopic cholecystectomy is a safe and effective alternative to open cholecystectomy and results in a significantly shorter hospital stay with considerable cost savings.
Adult↗
Assessing physicians' compliance with guidelines for Papanicolaou testing.
In this study, population-based data were used to examine the appropriateness of Papanicolaou (Pap) testing from the perspective of the women being tested and their physicians. The approach used is unique in its assessment of overtesting and undertesting in the primary care setting. From the data base of the province of Manitoba's universal health insurance plan, 4-year health histories (1981 to 1984) were constructed for each woman from a random sample of the population of women who, in 1982, were between the ages of 25 to 64 years (n = 22,287). At the last visit to a general practitioner, gynecologist, or general surgeon in 1984 (termed the current visit), the authors determined whether a Pap test was given for each woman. Using decision rules from a Canadian task force report on cervical screening and previous health history, the authors evaluated the appropriateness of screening by determining whether a Pap test was given and was needed, or whether a women who had not received a Pap test required one. Overall, 55.7% of women were tested appropriately. Of the 5352 women who received a Pap test at the current visit, 62.8% were overtested. Of the 16,935 women not tested at the current visit, 38.5% required screening (i.e. were undertested). Characteristics of a physician's practice that were significantly related to compliance with the guidelines included having a high proportion of patients visiting for obstetric or gynecologic reasons. Variables that were associated with negative compliance were 1) being a gynecologist; and 2) having a high proportion of patients who lived in inner city or rural areas. Because physicians are paid a fee for every Pap smear taken and the guidelines were well disseminated, these results should be reasonably representative of fee-for-service practice in North America, where preventive care is not subject to user charges. This study supports previous findings that a passive approach to dissemination of guidelines is insufficient to effect practice.
Adult↗