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E Sobel

Publications and source records attributed to E Sobel.

At least 37 records · Page 2Linked to original sources
PubMed1998

Measured haplotype analysis of the angiotensin-I converting enzyme gene.

Linkage and segregation analysis have shown that circulating angiotensin-I converting enzyme (ACE) levels are influenced by a major quantitative trait locus that maps within or close to the ACE gene. The D variant of a 287 bp insertion/deletion (I/D) polymorphism in intron 16 of the gene is associated with high ACE levels and may also be related to increased risk of cardiovascular disease. Multiple variants that are in linkage disequilibrium with the I/D polymorphism have been described, but it is unknown if any of these are directly implicated, alone or in combination with as yet undiscovered variants, in the determination of ACE levels. An analysis of 10 polymorphisms spanning 26 kb of the ACE gene revealed a limited number of haplotypes in Caucasian British families due to strong linkage disequilibrium operating over this small chromosomal region. A haplotype tree (cladogram) was constructed with three main branches (clades A-C) which account for 90% of the observed haplotypes. Clade C is most likely derived from clades A and B following an ancestral recombination event. This evolutionary information was then used to direct a series of nested, measured haplotype analyses that excluded upstream sequences, including the ACE promoter, from harbouring the major ACE-linked variant that explains 36% of the total trait variability. Residual familial correlations were highly significant, suggesting the influence of additional unlinked genes. Our results demonstrate that a combined cladistic/measured haplotype analysis of polymorphisms within a gene provides a powerful means to localize variants that directly influence a quantitative trait.

England↗
PubMed1998

Disposition after acute stroke: who is not sent home from hospital?

BACKGROUND: Known demographic and clinical characteristics of stroke survivors that affect selection of the facility to which they are discharged after hospitalization for an acute stroke are, for the most part, not population based and therefore may be unrepresentative. We present an analysis of such characteristics using the Lehigh Valley stroke cohort which is population based. METHOD: We enrolled patients within 1 month of onset of their initial acute stroke who were hospitalized between 1987 and 1989 at one of the eight hospitals in the Lehigh Valley, and 662 patients were discharged alive. The facility to which they were discharged was known for 660. Data on age, sex, presence of five selected comorbidities (hypertension, myocardial infarction, cardiac arrhythmia, diabetes mellitus and transient ischemic attacks), length of hospitalization and neurologic deficits from the stroke were systematically collected on standardized forms. Polytomous logistic regression was used to determine the factors associated with not being discharged home. Relative risk (RR) associated with discharge to a nursing or rehabilitation facility for each independent predictor was calculated using as the referent, those who went home. RESULTS: Older age was a statistically significant predictor of not being sent home (RR = 1.2 for nursing home placement), but gender and living with a spouse were not. Having a selected comorbidity did not increase the RR of not being sent home regardless of the type, nor did risk of not being sent home increase with more than one illness. Considering neurologic deficits from the stroke, patients with lower extremity weakness had a 2.6- and 3.5-fold risk of being sent to a nursing or a rehabilitation facility, respectively, compared to those without such weakness while for those with upper extremity weakness, the RR was 1.5 and 4.9, respectively. Language deficit imposed a RR of 3.1 and 2.3 of going to a nursing or rehabilitation facility, respectively. Right facial weakness also emerged as a significant risk factor for not being discharged home, perhaps because of its association with language deficit. The longer a patient was hospitalized after a stroke, the less likely it was that such a patient would go home (RR = 1.1/hospitalization day). CONCLUSION: Using population-based data on stroke survivors, our study showed the characteristics of patients who are less likely to be discharged home and, instead, are discharged to a nursing or a rehabilitation facility. Data like ours which were population based may be useful in discharge planning for stroke patients by policy makers and health care providers.

Acute Disease↗
PubMed1998

Tarsal coalition in an adult with cavovarus feet.

Symptomatic tarsal coalition is often considered to be synonymous with peroneal spastic flatfoot. The association of the cavovarus foot type with tarsal coalition is less well established and has been described only in children. This article describes a case of an adult female with symptomatic cavovarus feet with talocalcaneal coalition. The authors theorize about the pathology of muscle spasm and pain in patients with this condition.

Adult↗
PubMed1998

Contrasts in clinical presentation and genetic transmission of myotonic dystrophy.

Myotonic dystrophy, the most common inherited neuromuscular disease, is an autosomal dominant muscular dystrophy characterized by myotonia and distal muscle weakness. It is caused by an increase in the number of cytosine-thymine-guanine (CTG) nucleotide repeats present on the long arm of chromosome 19. Two patients were evaluated, one with classic adult-onset myotonic dystrophy and the other with congenital myotonic dystrophy. Contrasts in the clinical features and genetic transmission of this disease and clinical management are reviewed.

Adult↗
PubMed1998

Pedal manifestations of musculoskeletal disease.

The major systemic musculoskeletal diseases that involve the foot include the inflammatory arthritides, gout, and diabetic osteoarthropathy. Podiatric problems are present in over one-third of patients with musculoskeletal disease and in over half of all patients with diabetes. The pedal manifestations of musculoskeletal disease are reviewed as the first indicators of systemic disorders and as they occur in established systemic diseases.

Arthritis, Rheumatoid↗
PubMed1998

Pedal manifestations of musculoskeletal disease in children.

Musculoskeletal disease presenting in a child's foot is usually an isolated mechanical problem rather than part of a systemic disease; however, the pediatric flatfoot may be a more serious problem, caused by tarsal coalitions, congenital vertical talus, or part of a syndrome. The most common congenital pediatric foot deformities, including flatfoot, talipes equinovarus, digital anomalies, and osteochondritis, have characteristic and easily identifiable features that should be familiar to the practitioner. In this article, these deformities are described as they occur in isolation and as the result of more serious syndromes or causes.

Child↗
PubMed1997

Analysis of bipolar disorder using affected relatives.

We have analyzed the GAW10 data from several studies of bipolar affective disorder (BPAD) using the software packages SimIBD and SIMWALK2. SimIBD implements a simulation-based affected-pedigree-member (APM) statistic, called SimAPM, as well as an APM-like statistic, also called SimIBD, that measures identical-by-descent (IBD) sharing. SIMWALK2 uses Markov chain Monte Carlo techniques to compute several IBD-based statistics on the degree of marker-allele clustering among all affected relatives. We have found no strong evidence of linkage to either chromosome 5 or 18. However, we did find that several markers showed p-values less than 0.01 and may deserve further study.

Alleles↗
PubMed1997

Amyotrophic lateral sclerosis and occupational exposure to electromagnetic fields.

In an hypothesis-generating case-control study of amyotrophic lateral sclerosis, lifetime occupational histories were obtained. The patients (n = 28) were clinic based. The occupational exposure of interest in this report is electromagnetic fields (EMFs). This is the first and so far the only exposure analyzed in this study. Occupational exposure up to 2 years prior to estimated disease symptom onset was used for construction of exposure indices for cases. Controls (n = 32) were blood and nonblood relatives of cases. Occupational exposure for controls was through the same age as exposure for the corresponding cases. Twenty (71%) cases and 28 (88%) controls had at least 20 years of work experience covering the exposure period. The occupational history and task data were used to classify blindly each occupation for each subject as having high, medium/high, medium, medium/low, or low EMF exposure, based primarily on data from an earlier and unrelated study designed to obtain occupational EMF exposure information on workers in "electrical" and "nonelectrical" jobs. By using the length of time each subject spent in each occupation through the exposure period, two indices of exposure were constructed: total occupational exposure (E1) and average occupational exposure (E2). For cases and controls with at least 20 years of work experience, the odds ratio (OR) for exposure at the 75th percentile of the E1 case exposure data relative to minimum exposure was 7.5 (P < 0.02; 95% CI, 1.4-38.1) and the corresponding OR for E2 was 5.5 (P < 0.02; 95% CI, 1.3-22.5). For all cases and controls, the ORs were 2.5 (P < 0.1; 95% CI, 0.9-8.1) for E1 and 2.3 (P = 0.12; 95% CI, 0.8-6.6) for E2. This study should be considered an hypothesis-generating study. Larger studies, using incident cases and improved exposure assessment, should be undertaken.

Adult↗
PubMed1997

The impact of service characteristics on functional outcomes from community support programs for persons with schizophrenia: a growth curve analysis.

A total of 172 individuals diagnosed with a schizophrenia spectrum disorder were followed for 36 months in 3 distinct models of community-based care. Functional outcome data gathered every 6 months were combined with service implementation data to test hypotheses concerning the impact of service characteristics on prospective client outcomes. The results using hierarchical linear modeling supported associations between the intensity, specificity, and longitudinality of services and improved client outcomes. Specifically, more intense services were associated with higher levels or rates of improvement on all indices of clinical and psychosocial functioning. The specificity results suggested that services needed to be targeted to specific areas of functioning in order for improvement to occur. The effect of longitudinality was contingent on the outcome domain examined.

Adult↗
PubMed1997

Stroke recurrence in diabetics. Does control of blood glucose reduce risk?

BACKGROUND AND PURPOSE: Patients with diabetes are at increased risk of stroke. Risk might be reduced if blood glucose level were controlled. METHODS: In a population-based study, we enrolled 621 patients within a month of an initial ischemic stroke and followed them regularly twice annually; 198 were diabetic. We monitored blood glucose level in 142 (72%) using glycosylated hemoglobin (HbAlc). Recurrent stroke frequency was determined by history, examination, and medical records. Cox proportional hazards models were used to examine the relationship between risk of recurrent stroke and HbAlc level. The models included interaction with time-dependent HbAlc level and history of diabetes, selected medical comorbidities, age, and sex. HbAlc level was analyzed as both a continuous and a dichotomous variable (ie, controlled versus uncontrolled); "controlled" was defined with different cut points. RESULTS: All but 17 patients (12%) whose blood glucose was monitored were well controlled (HbAlc < 8%). HbAlc level was not associated with increased risk of stroke recurrence (hazard ratio [HR], 0.87 per 1% increment in HbAlc; 95% confidence interval [CI], 0.623 to 1.219), nor was there a trend toward increased risk of recurrent stroke as the cut point defining "controlled" increased: with HbAlc at < 6%, the HR for the uncontrolled group was 0.51 (95% CI, 0.176 to 1.503); at < 7%, it was 0.43 (95% CI, 0.089 to 1.923); and at < 8%, it was also 0.43 (95% CI, 0.057 to 3.317). CONCLUSIONS: Among diabetic patients with an initial stroke, no association between HbAlc level over time and risk of stroke recurrence was found. However, most patients in this cohort were well controlled, and any adverse effect of poor control could not be adequately tested.

Aged↗
PubMed1997

Effect of persistent toe walking on ankle equinus. Analysis of 60 idiopathic toe walkers.

Sixty idiopathic toe walkers (age range 1 to 15 years) were evaluated to determine the natural history of toe-to-toe gait and the relationship between the range of ankle dorsiflexion and increasing age. The majority of toe walkers had a normal birth weight (average 7.06 pounds), walked on time (average 11.14 months), began toe walking immediately (87%), stood plantigrade (90%), were able to demonstrate a heel-toe gait (88%), and toe walked intermittently (68%). Forty-six percent of all toe walkers were found to have 0 degree or less of passive ankle dorsiflexion. Equinus toe walkers (mean dorsiflexion -5.2 degrees) had significantly less dorsiflexion than the remaining toe walkers (mean dorsiflexion 16.9 degrees; p < 0.01). An average of 12 degrees of dorsiflexion was resent in the 1-to 2-year age group, which gradually diminished to -4 degrees in the 6- to 15-year age group. It appears that there may be a relationship between persistent toe walking and the development of ankle equinus in some children and therefore interventions should be considered to inhibit the toe walking progression.

Adolescent↗
PubMed1997

Orthotic variants.

When patients present with problems for which existing devices are not adequate, research is stimulated. However, new methods and devices must improve on the older versions and should not result in variation that is less effective than the original versions. Variants less effective than the originals will be discussed with illustrative examples. Orthoses, prostheses, and pressure-reduction techniques for the diabetic foot will be considered.

Amputation, Surgical↗
PubMed1997

Reappraisal of the negative impression cast and the subtalar joint neutral position.

For many years, podiatric physicians have been casting orthotic devices with the foot placed in the subtalar joint neutral position based on work by Root et al. Recent research pertaining to the subtalar joint neutral position during the gait cycle is in disagreement with the theory of Root et al and the inverted subtalar joint neutral casting technique. The current research and a historical perspective of casting techniques will be reviewed to help clarify terminology and to decipher the relationship between the rearfoot position during the gait cycle and casting technique.

Foot↗
PubMed1997

Drop foot as a complication of acupuncture injury and intragluteal injection.

Two cases of peroneal nerve palsy resulting in drop foot are reported. One case involves direct injury to the common peroneal nerve by an acupuncture needle. A second case describes sciatic nerve injury caused by an intragluteal injection. Although acupuncture injury at the spinal cord level and the peripheral nerves of the upper extremity has been documented, peroneal nerve palsy resulting from acupuncture therapy has not been previously reported.

Acupuncture Therapy↗
PubMed1997

Cauda equina syndrome resulting in late sequela of calcaneal gait and neuropathic heel ulcer.

The case of a 27-year-old female, 5 years after a motor vehicle accident that resulted in spinal cord damage, is reviewed. She progressed well after her accident for 4 years, at which time she developed a neuropathic heel ulceration, aggravated by her calcaneal gait and pregnancy weight gain. The rarity of such a case involving neuropathic ulceration and calcaneal gait after partial deficit of cauda equina function prompted this article.

Adult↗
PubMed1997

Nonossifying fibroma. Four cases and review of the literature.

Nonossifying fibroma is a benign, lytic lesion that occurs in young children and adolescents. Radiographically, the lesion is multilocular and sharply demarcated. It often occurs at the metaphyseal region of long bones of the lower extremity and is usually eccentrically located. Four cases of nonossifying fibroma occurring during the past 7 years are presented with a review of the literature.

Adolescent↗
PubMed1997

Multiple hereditary osteochondromatosis. Two cases with ankle and knee deformities.

Two case histories of multiple hereditary osteochondromatosis are presented. Multiple hereditary exostoses are the most common inherited systemic disorder of bone. The presence of ankle deformity in 50% of the cases and the potential for malignant transformation make this an important disease for the clinician to be familiar with.

Adult↗