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Biomedical subjects

M M Cohen

Publications and source records attributed to M M Cohen.

At least 73 records · Page 4Linked to original sources
PubMed1999

Oral manifestations of Schimmelpenning syndrome: case report and review of literature.

Schimmelpenning syndrome (SS) is characterised by specific skin manifestations, skeletal defects, and central nervous system abnormalities. Here, the SS is briefly reviewed, and the oral and dental manifestations are described in a patient whose medical findings were previously published and included severe hypophosphatemic rickets. Significant oral and dental features included papillomatous lesions of the gingiva, hemihyperplasia (hemihypertrophy) of the tongue, bone cysts, aplasia of teeth, enlarged pulp chambers, hypoplastic or absent enamel, and an odontodysplasia-like permanent tooth.

Adolescent↗
PubMed1998

Clinical differentiation between Proteus syndrome and hemihyperplasia: description of a distinct form of hemihyperplasia.

Proteus syndrome is a rare and highly variable hamartomatous syndrome that can affect multiple organ systems. It is characterized by hyperplastic lesions of connective tissue, vascular malformations, linear verrucous epidermal nevi, and hyperostoses. The cause of the disorder is unknown, but the current working hypothesis is that it is caused by a mosaic alteration that leads to a highly variable phenotype, equal sex ratio, sporadic occurrence, and discordant monozygotic twins. Herein we describe our experience with 18 patients with a referring diagnosis of Proteus syndrome. It was found that imaging studies are very useful for the characterization of the syndrome. One finding was that splenic hyperplasia can be a manifestation of Proteus syndrome. Analysis of the clinical data shows that Proteus syndrome is frequently confused with "hemihyperplasia." A distinct subtype of hemihyperplasia is defined that includes static or mildly progressive hemihyperplasia and multiple lipomata.

Adolescent↗
PubMed1998

Perspectives on overgrowth syndromes.

In this overview, topics addressed include cellular overgrowth; recent molecular advances; problems of "lumping" and "splitting"; classification systems; relationship of neoplasia to overgrowth syndromes; vascular malformations; and problems in designation of overgrowth syndromes.

Growth Disorders↗
PubMed1998

Favorable prognosis for children with Pfeiffer syndrome types 2 and 3: implications for classification.

Pfeiffer syndrome (PS) is an autosomal dominant condition comprising bilateral coronal craniosynostosis, midface hypoplasia with a beaked nasal tip, and broad and medially deviated thumbs and great toes. It is a clinically variable disorder and has been divided into three subtypes [Cohen, 1993: Am J Med Genet 45:300-307]. Type 1 represents the less severe cases, while types 2 and 3 are the more severe cases. These latter types tend to have a higher risk for neurodevelopmental problems and a reduced life expectancy. Here we review the clinical course of seven children with PS type 3. All of these children had severe manifestations of PS; however, development was essentially normal in three, mild delay was noted in two, and moderate delay in one. Favorable outcomes in children with types 2 and 3 PS were also documented by Moore et al. [1995: Cleft Pal-Craniofac J 32:62-70]. These cases illustrate that while children with PS types 2 and 3 have an increased risk for neurodevelopmental difficulties, a favorable outcome can be achieved in some cases with aggressive medical and surgical management. Finally, although such management should be the rule for PS types 2 and 3, it needs to be remembered that normal outcome is not the rule. The prognosis for favorable neurodevelopmental outcome and/or life expectancy remains guarded in most cases.

Acrocephalosyndactylia↗
PubMed1998

Reliability of the timeline follow-back sexual behavior interview.

The reliability of self-reported sexual behavior is a question of utmost importance to human immunodeficiency virus (HIV) prevention research. The Timeline Follow-Back (TLFB) interview, which was developed to assess alcohol consumption on the event level, incorporates recall-enhancing techniques that result in reliable information. In this study, the TLFB interview was adapted to assess HIV-related sexual behaviors and their antecedents, and its reliability was assessed. The interview was administered to 110 participants (46% women, M age = 19.7; range = 18-41), and 58 participants who reported sexual behavior during the previous three months returned one week later for a second interview. Test-retest intraclass correlations (rho) from the TLFB protocol showed that all sexual behaviors were reported reliably (rho range = .86 to .97, median = .96). Bootstrapping, a nonparametric statistical technique, was used for significance testing in the reliability analyses. Reliability was equivalent across each of the three months assessed with the TLFB and was equivalent to conventional assessment methods (i.e. single-item questions). These findings show that the TLFB sexual behavior interview provides reliable reports of sexual behavior over three months and yields event-level data that are extremely valuable for sexual behavior and HIV-prevention research.

Adolescent↗
PubMed1998

A solution to the problem of undictated operative reports by residents.

PURPOSE: The objective of this study was to reduce the number of operative reports assigned to the surgical residents but not dictated within 48 hours by 80% within 6 months. METHODS: A before-after trial was conducted in a teaching hospital (part of a major academic medical center) in an urban setting, of a complex intervention based on a theoretical framework for behavioral change. Data were collected for more than 6 months before the intervention, and then in three separate time periods during the next 18 months. The intervention, lasting 41 weeks, and directed specifically at undictated operative reports, comprised the following: educational sessions, posting of residents' names with delinquency rates, attending/resident interactions, telephone reminders, rewards, and punishments. The population studied comprised every resident who rotated through the general surgery service over a 2-year period 1995 to 1997. RESULTS: The mean (+/-SD) number of undictated operative reports declined progressively from 72 (+/-8.3) to 6 (+/-2.6). This 92% reduction was statistically significant (P <0.00005). The mean number of undictated discharge summaries declined progressively from 54 (+/-11.2) to 13 (+/-8.1). This 76% reduction was also statistically significant (P <0.00005). There was a close correlation between the operative reports and the discharge summaries (r = 0.82). CONCLUSIONS: The performance of residents on the surgical service in respect to operative report dictation can be profoundly influenced by a carefully targeted set of interventions based on behavioral theory. The improved performance can be maintained with simple reminders and the halo effect of the intervention extends to the dictation of discharge summaries.

Behavior Therapy↗
PubMed1998

Assessing the extent of contamination in the Canadian National Breast Screening Study.

OBJECTIVE: To estimate the proportion of Canadian National Breast Screening Study (NBSS) participants who went outside the trial for a mammogram, based on health insurance claims data. METHOD: Prospective cohort study linking trial subjects with population-based administrative data. SUBJECTS: All NBSS participants enrolled in the Winnipeg screening center who had health insurance claims to Manitoba Health (n = 9,780). ANALYSIS: Claims for bilateral mammograms were compared by screening arm allocation and age group at enrollment. Mammograms likely to be "screening" were defined based on prior claim history. RESULTS: For women aged 40 to 49 at enrollment, 5.3% in the intervention group and 21.8% in the control group had a claim for at least one bilateral mammogram. After excluding nonscreening mammograms these proportions fell to 2.2% and 14.1% (P < 0.0001). For women aged 50 to 59, 4.5% in the intervention group and 16.7% of the control group had at least one claim for a bilateral mammogram. These proportions were 2.1% and 10.5% for screening (P < 0.0001). CONCLUSION: Health care utilization data can be used to estimate contamination in a screening trial. The levels of contamination resulting from participants going outside the study for a screening test can have an impact on the power of the study and need to be considered when interpreting results and planning future screening studies.

Adult↗
PubMed1998

Achondroplasia, hypochondroplasia and thanatophoric dysplasia: clinically related skeletal dysplasias that are also related at the molecular level.

This is the second of three articles on modern genetic concepts of a number of syndromes and disorders. Three short limb skeletal dysplasias with additional abnormalities of the skull are discussed. All are caused by mutations on fibroblast growth factor receptor 3 (FGFR3). A pathogenetic hypothesis is proposed to explain differences in the severity of short stature, midface deficiency, and craniosynostosis.

Achondroplasia↗
PubMed1998

Some neoplasms and some hamartomatous syndromes: genetic considerations.

This is the first of three articles on modern genetic concepts of a number of syndromes and disorders. About 1% of cancer mutations arise in the germline and produce a variety of neoplasms and hamartomatous syndromes. However, upward of 10-15% of all cancers have a major inherited component, although many of these are still enigmatic. The genetic basis is presented and following a review of many neoplasms and hamartomatous syndromes, the RET proto-oncogene is discussed as an example.

DNA Mutational Analysis↗
PubMed1998

Laterality in visual speech perception.

The lateralization of visual speech perception was examined in 3 experiments. Participants were presented with a realistic computer-animated face articulating 1 of 4 consonant-vowel syllables without sound. The face appeared at 1 of 5 locations in the visual field. The participants' task was to identify each test syllable. To prevent eye movement during the presentation of the face, participants had to carry out a fixation task simultaneously with the speechreading task. In one study, an eccentricity effect was found along with a small but significant difference in favor of the right visual field (left hemisphere). The same results were found with the face articulating nonlinguistic mouth movements (e.g., kiss). These results suggest that the left-hemisphere advantage is based on the processing of dynamic visual information rather than on the extraction of linguistic significance from facial movements.

Adolescent↗
PubMed1998

Perspectives on craniofacial syndromes.

This article reviews syndrome classification; types of anomalies and their interrelations; syndrome delineation; birth prevalence; nomenclature; molecular delineation; and phenotype/genotype correlations.

Craniofacial Abnormalities↗
PubMed1998

Is craniofacial morphology in Apert and Crouzon syndromes the same?

This article reviews previous research on the craniofacial development in Apert and Crouzon syndromes and adds new roentgencephalometric information. It is concluded that craniofacial development in the two syndromes is not the same. Marked differences were found in the calvaria, cranial base, orbit, maxilla, zygoma, incisal occlusion, and soft tissue profile. In general, abnormal craniofacial morphology was more severe in Apert syndrome than in Crouzon syndrome.

Acrocephalosyndactylia↗
PubMed1998

Costs of hysterectomy: does surgical approach make a difference?

We wanted to determine the direct cost of hysterectomies by surgical approach and to estimate the impact on costs if more vaginal hysterectomies were substituted for abdominal hysterectomies for women under 50 years of age. Eleven Ontario (Canada) hospitals provided 1994 cost data based on 1376 hysterectomies. These data were applied to all hysterectomies performed in the province for women under 50 to estimate the cost of subtotal, vaginal (VH), or laparoscopically assisted vaginal hysterectomy (LAVH) relative to total abdominal hysterectomy (TAH). We determined the change in costs if TAHs in Ontario in 1994-1995 had been substituted by VH or LAVH. Teaching and community hospitals were considered separately. VH was less costly than TAH, subtotal, or LAVH. The direct cost for TAH at teaching hospitals was much higher than at community hospitals. Costs relative to TAH were higher for LAVH at community but not at teaching hospitals. From the population baseline rate of 25% VH, 5% LAVH, 10% subtotal, and 60% TAH, we estimated that increasing VH to 45% would lower costs by 2.4%; increasing LAVH to 25% would increase costs by 4.4%. VH is associated with lower costs than TAH or LAVH. However, the magnitude of the substitution and the extent of cost savings should ultimately be based on evaluation of patient outcomes.

Adult↗
PubMed1998

Testing internal consistency and construct validity during evaluation of performance in a patient simulator.

UNLABELLED: The primary goal of this study was to test the items in a rating system developed to evaluate anesthesiologists' performance in a simulated patient environment. A secondary goal was to determine whether the test scores could discriminate between resident and staff anesthesiologists. Two 5-item clinical scenarios included patient evaluation and induction and maintenance of anesthesia. Rating scales were no response to the problem (score = 0), compensating intervention (score = 1), and corrective treatment (score = 2). Internal consistency was estimated using Cronbach's coefficient alpha. Scores between groups were compared using the Cochran-Mantel-Haenszel test. Subjects consisted of 8 anesthesiology residents and 17 university clinical faculty. The Cronbach's coefficient alpha was 0.27 for Scenario A and 0.28 for Scenario B. Two items in each scenario markedly decreased internal consistency. When these four items were eliminated, Cronbach's coefficient alpha for the remaining six items was 0.66. Faculty anesthesiologists scored higher than residents on all six items (P < 0.001). A patient simulator-based evaluation process with acceptable reliability was developed. IMPLICATIONS: The reliability of anesthesia clinical performance in a patient simulation environment was assessed in this study. Of 10 items, 4 were poor in the evaluation process. When these items were removed, the reliability of the instrument improved to a level consistent with other studies. Because faculty scored higher than resident anesthesiologists, the instrument also showed discriminant validity.

Adult↗
PubMed1998

Möbius syndrome: classification and grading system.

Möbius syndrome is characterized by facial abnormalities, but the limbs, chest wall, spine, and soft tissues also can be involved. There is no system for categorizing the various anomalies, grading phenotypic severity, designing treatment protocols, or assessing therapeutic results. This is a retrospective analysis of 27 patients with Möbius syndrome seen in our craniofacial unit from 1980 to 1994. We categorized and graded the cranial nerve deficits and diverse musculoskeletal abnormalities of the face, upper and lower limbs, and trunk. The first letter for each of five potentially involved structures, i.e., cranial nerve, lower limb, upper limb, face, and thorax, formed the acronym CLUFT. The structural and/or functional deficits for each component were graded on a scale of 0 to 3. Complete facial nerve paralysis was documented in 11 patients and paresis in 16. Facial nerve paralysis was bilaterally symmetric in 17 of 26 patients. Sixth nerve paralysis was present in 23 of 27 patients; other cranial nerves were affected in 8 of 27 patients. Lower limbs were involved in 10 of 27 patients and upper limbs in 7 of 27 patients. Facial structures were affected in 17 of 27 patients (e.g., microtia, micrognathia, and microphthalmia), and chest wall deformities were found in 8 of 27 patients (e.g., scoliosis, hypoplasia of the breast, pectoral muscles, and scapula). We noted that microtia primarily involved second pharyngeal arch-derived structures. The CLUFT system permits categorization and comparison of Möbius patients for phenotypic and management outcome studies. Documentation of the widespread structural anomalies suggests that pathogenesis involves vascular disruption; a detailed prenatal history is indicated.

Abnormalities, Multiple↗