New overgrowth syndrome and FGFR3 dosage effect.
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.
Explore the source record for details and available documents.
BACKGROUND: If an observer first learns to recognize an object in a specific orientation, a significant increase in processing time usually occurs when the object is subsequently seen in a different orientation; this phenomenon is called the "misorientation effect." The present study examines how quickly and how accurately human observers discriminate between airport maps that are viewed in orientations other than those in which they were initially learned. METHOD: Participants were trained to discriminate between two navigation maps that were seen in only one orientation; they subsequently were tested with maps and aerial photographs of the same airports that were presented in various orientations. RESULTS AND CONCLUSIONS: There were three principal findings: a) discriminative responses to maps of airports were most rapid when the maps were seen in the same orientation as that in which they were initially learned; b) a significant reduction in reaction time (RT) occurred with repeated presentations of the misoriented stimuli; and c) information learned from navigation maps was not sufficient for all observers to recognize aerial photographs of the same airports.
Explore the source record for details and available documents.
PURPOSE: Assessment of physician performance has been a subjective process. An anaesthesia simulator could be used for a more structured and standardized evaluation but its reliability for this purpose is not known. We sought to determine if observers witnessing the same event in an anaesthesia simulator would agree on their rating of anaesthetist performance. METHODS: The study had the approval of the research ethics board. Two one-hour clinical scenarios were developed, each containing five anaesthetic problems. For each problem, a rating scale defined the appropriate score (no response to the situation: score = 0; compensating intervention defined as physiological correction: score = 1; corrective treatment: defined as definitive therapy score = 2). Video tape recordings, for assessment of inter-rater reliability, were generated through role-playing with recording of the two scenarios three times each resulting in a total of 30 events to be evaluated. Two clinical anaesthetists, uninvolved in the development of the study and the clinical scenarios, reviewed and scored each of the 30 problems independently. The scores produced by the two observers were compared using the kappa statistic of agreement. RESULTS: The raters were in complete agreement on 29 of the 30 items. There was excellent inter-rater reliability (= 0.96, P < 0.001). CONCLUSIONS: The use of videotapes allowed the scenarios to be scored by reproducing the same event for each observer. There was excellent inter-rater agreement within the confines of the study. Rating of video recordings of anaesthetist performance in a simulation setting can be used for scoring of performance. The validity of the scenarios and the scoring system for assessing clinician performance have yet to be determined.
Fibroblast growth factor receptor mutations cause some of the main short-limb skeletal dysplasias and craniosynostosis syndromes, including achondroplasia, hypochondroplasia, thanatophoric dysplasia, Apert syndrome, Crouzon syndrome, Pfeiffer syndrome, and Jackson-Weiss syndrome. Much work remains to be done in unraveling the pathogenesis of these phenotypes.
BACKGROUND: The objective of this study was to compare the histology of gallbladders removed prior to the introduction of laparoscopic cholecystectomy with that found after the introduction of the laparoscopic technique to determine if there has been a change in the indications for surgical treatment of gallbladder disease. METHODS: A retrospective review of all patients undergoing cholecystectomy during 1989, 1992, and 1993 was completed at two large community teaching hospitals in two different geographic regions of the United States. Patients who underwent cholecystectomy as the primary procedure were studied. A total of 1,815 cases met the criteria for analysis. Histological diagnoses were categorized as acute cholecystitis with or without cholelithiasis, or chronic cholecystitis with cholelithiasis. RESULTS: The number of cholecystectomies performed increased by 58% from 1989 to 1993 (p < 0.05). The number of cholecystectomies for acute cholecystitis did not change. CONCLUSIONS: With the advent of laparoscopic cholecystectomy, the number of cholecystectomies significantly increased and the proportion of cholecystectomies performed for chronic disease also increased. There has been a significant change in the surgical management of gallbladder disease with increased willingness to recommend elective cholecystectomy. Further study is needed to determine if there is real benefit from earlier elective cholecystectomy.
A review of 39 articles found no consensus on indication for laparoscopic assisted vaginal hysterectomy (LAVH) compared with traditional approaches. Since only three randomized trials comparing LAVH with traditional methods exist, the scientific basis for surgical choice is lacking. Uncontrolled studies indicated that outcomes following LAVH were not superior to vaginal hysterectomy and costs were significantly higher.
Patient L.M. has a well-documented, long-standing and profound deficit in the perception of visual movement, following bilateral lesions of area V5 (visual movement cortex). Speechreading was explored in this patient in order to clarify the extent to which the extraction of dynamic information from facial actions is necessary for speechreading. Since L.M. is able to identify biological motion from point-light displays to whole-body forms and has some limited visual motion capabilities, we expected that some speechreading of faces in action would be possible in this patient. L.M.'s reading of natural speech was severely impaired, despite unimpaired ability to recognize speech-patterns from face photographs and reasonable identification of monosyllables produced in isolation. She was unable to track multisyllabic utterances reliably and was insensitive to vision when incongruent audiovisual speech syllables were shown. Point-light displays of speech were as poorly read as whole face displays. Rate of presentation was critical to her performance. With speech, as with other visual events, including tracking the direction of gaze and of hand-movement sequences, she could report actions that unfolded slowly (approximately one event per 2 s). In line with this, she was poor at reporting whether seen speech rate was normal, fast (double-speed) or slow (half-speed). L.M.'s debility is the converse of that reported for a patient with lesions primarily to V4 (H.J.A.), who is unable to speechread photographs of faces but can speechread moving faces. The visual analysis of both form and motion is required for speechreading; the neural systems that support these analyses are discussed.
Craniofrontonasal syndrome (CFNS, OMIM 304110) is a distinctive genetic disorder whose main clinical manifestations include coronal synostosis, widely spaced eyes, clefting of the nasal tip and various skeletal anomalies. CFNS originally was thought to be transmitted as an autosomal dominant trait, but recent studies suggest that it is X-linked dominant, whereby all daughters of males are affected, whereas none of their sons are affected. Here we report data confirming that CFNS is X-linked, mapping to a 13 cM interval in Xp22 with a maximum two-point lod score of 3.9 (theta = 0) at DXS8022 and a multipoint lod score of 5.08 at DXS1224. Detailed phenotypic analysis shows that females are more severely affected than males, a highly unusual characteristic for an X-linked disorder. CFNS represents the first multiple congenital anomaly syndrome with this unusual phenotypic pattern of X-linked inheritance.
Since postoperative pain is associated with morbidity and increased hospital resources, reducing pain should improve patient care. Enhanced education and individualized feedback were introduced at the study hospital to promote anesthesiologists' use of patient-controlled analgesia, nonsteroidal antiinflammatory drugs, epidural morphine, and nerve blocks. After 6-mo baseline, anesthesiologists at the study hospital attended educational seminars and received literature about pain management. Personalized feedback forms were then distributed to each anesthesiologist showing the management and rates of pain for their patients. Practice was as usual at a control hospital. Pain in the postanesthesia care unit (PACU) and for 6-h post-PACU discharge was assessed using PACU records and interviews for 3413 patients at the study hospital and 1753 at the control hospital. From the baseline to the feedback period, the absolute increase in the proportion of patients receiving at least one promoted strategy was greater at the study hospital than at the control hospital (44.9% vs 22.8% P < 0.0001). Mean pain scores with activity decreased at both hospitals; study hospital 7.6 (7.3-7.8, 99% confidence interval) to 6.2 (5.9-6.5); control hospital 7.3 (6.9-7.6) to 6.1 (5.7-6.4). Education and feedback increased the use of pain management strategies at the study hospital. The modest change in patient outcome was unlikely related to directed interventions.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
The Grace Hospital Surgical Services redesign project began in December 1995 and concluded in November 1996. It was led by the Chief of Surgery, the Surgical/Anesthesia Services Director, and the Associate Director of Critical Care/Trauma. The project was undertaken in order to radically redesign the delivery of surgical services in the Detroit Medical Center (DMC) Northwest Region. It encompassed the Grace Hospital Main Operating Room (10 operating theatres) and Post-Anesthesia Recovery Unit, and a satellite Ambulatory Surgery Center in Southfield, Michigan. The four areas of focus were materials management, case scheduling, patient flow/staffing, and business planning. The guiding objectives of the project were to improve upon the quality of surgical services for patients and physicians, to substantially reduce costs, and to increase case volume. Because the Grace Surgical Services redesign project was conducted in a markedly open communicative, and inclusive fashion and drew participation from a broad range of medical professionals, support staff, and management, it created positive ripple effects across the institution by raising staff cost-consciousness, satisfaction, and morale. Other important accomplishments of the project included: Introduction of block scheduling in the ORs, which improved room utilization and turnaround efficiencies, and greatly smoothed the boarding process for physicians. Centralization of all surgical boarding, upgrading of computer equipment to implement "one call" surgery scheduling, and enlarging the capacity for archiving, managing and retrieving OR data. Installation of a 23-hour, overnight recovery unit and provision of physician assistants at the Ambulatory Surgery Center, opening the doors to an expanded number of surgical procedures, and enabling higher quality care for patients. Reduction of FTE positions by 27 percent at the Ambulatory Surgery Center. This yielded a total cost reduction of +1.5 million per annum in the annual budget of +10.3 million; Recruited 10 new podiatrists and increased the volume of cases brought to Northwest Region facilities by surgical specialists. This added 100 cases in 1996, and is projected to add 500 cases in 1997. A 14.5 percent reduction in the cost of operating the Surgical Services was achieved. This was accompanied by enhanced staff morale, physician satisfaction and a higher quality of patient care.
Maternal serum screening for the detection of fetal Down syndrome has become widespread. Prenatal detection of fetal Down syndrome has important implications not only for management of the current pregnancy, but also for recurrence risk counseling for future pregnancies. We report a case of fetal Down syndrome due to an isochromosome 21q detected after maternal serum screening using alpha-fetoprotein and human chorionic gonadotropin indicated an increased risk for fetal Down syndrome in a 19-year-old pregnant woman. This confirms that maternal serum screening can detect fetal Down syndrome due to rare chromosome rearrangements and illustrates the importance of cytogenetic studies for provision of appropriate genetic counseling.
The underlying basis of many forms of syndromic craniosynostosis has been defined on a molecular level. However, many patients with familial or sporadic craniosynostosis do not have the classical findings of those craniosynostosis syndromes. Here we present 61 individuals from 20 unrelated families where coronal synostosis is due to an amino acid substitution (Pro250Arg) that results from a single point mutation in the fibroblast growth factor receptor 3 gene on chromosome 4p. In this instance, a new clinical syndrome is being defined on the basis of the molecular finding. In addition to the skull findings, some patients had abnormalities on radiographs of hands and feet, including thimble-like middle phalanges, coned epiphyses, and carpal and tarsal fusions. Brachydactyly was seen in some cases; none had clinically significant syndactyly or deviation of the great toe. Sensorineural hearing loss was present in some, and developmental delay was seen in a minority. While the radiological findings of hands and feet can be very helpful in diagnosing this syndrome, it is not in all cases clearly distinguishable on a clinical basis from other craniosynostosis syndromes. Therefore, this mutation should be tested for in patients with coronal synostosis.
The author reflects on the disheartening report given by Dr. E. Jean Parboosingh and associates on Canadian screening programs for cervical cancer (see pages 1847 to 1853 of this issue). Although cancer of the cervix is one of the few preventable forms of cancer, little progress has been made toward the establishment of programs to control this disease. Barriers to progress include a lack of priority given to women's health issues, insufficient public awareness of cervical cancer, the absence of vocal lobby groups, poor understanding of the limitations of secondary prevention, uncertainty about professional jurisdiction and the financial commitment of government, a tendency for minutiae to deflect attention from essential aims and the sheer complexity of the task of prevention and control. Unless these barriers are overcome it is unlikely that there will be much progress toward the eradication of cervical cancer in Canada.
Explore the source record for details and available documents.