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Biomedical subjects

D McCormick

Publications and source records attributed to D McCormick.

At least 37 records · Page 2Linked to original sources
PubMed2001

Joint and skin laxity with Dandy-Walker malformation and contractures: a distinct recessive syndrome?

We report the case of a girl who has joint and skin laxity with atrophic scarring, and was diagnosed at birth with a Dandy-Walker malformation. She subsequently developed joint contractures, hydrocephalus and syringomyelia. This case shows some similarities to Ehlers-Danlos syndrome type VI, but with no evidence of lysyl hydroxylase deficiency or ocular fragility. It is likely that she represents a distinct and recognizable syndrome. There was parental consanguinity and a subsequent pregnancy resulted in a similarly affected fetus, suggesting autosomal recessive inheritance.

Abnormalities, Multiple↗
PubMed2000

Failure to replicate association between the gene for the neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4) and IGE.

The gene for the neuronal nicotinic acetylcholine receptor alpha4 subunit (CHRNA4) was identified as a gene underlying a rare idiopathic partial epilepsy syndrome in humans, autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). In a recent study, one of four silent polymorphisms (594 C/T) in CHRNA4 showed association with the common subtypes of idiopathic generalised epilepsy (IGE). In the present study, three of these polymorphisms were investigated for association in 182 Caucasian patients with IGE, but not categorised by subtype. They were compared with 178 controls in a case/control study. Further analyses were performed using a family-based design. None of the three polymorphisms exhibited any association with IGE. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:814-816, 2000.

Adult↗
PubMed2000

Incidence and preventability of adverse drug events in nursing homes.

PURPOSE: Adverse drug events, especially those that may have been preventable, are among the most serious concerns about medication use in nursing homes. We studied the incidence and preventability of adverse drug events and potential adverse drug events in nursing homes. METHODS: We performed a cohort study of all long-term care residents of 18 community-based nursing homes in Massachusetts during a 12-month observation period. Potential drug-related incidents were detected by stimulated self-report by nursing home staff and by periodic review of the records of nursing home residents by trained nurse and pharmacist investigators. Each incident was classified by 2 independent physician-reviewers, using a structured implicit review process, by whether or not it constituted an adverse drug event or potential adverse drug event (those that may have caused harm, but did not because of chance or because they were detected), by the severity of the event (significant, serious, life-threatening, or fatal), and by whether it was preventable. Examples of significant events included nonurticarial rashes, falls without associated fracture, hemorrhage not requiring transfusion or hospitalization, and oversedation; examples of serious events included urticaria, falls with fracture, hemorrhage requiring transfusion or hospitalization, and delirium. RESULTS: During 28,839 nursing home resident-months of observation in the 18 participating nursing homes, 546 adverse drug events (1.89 per 100 resident-months) and 188 potential adverse drug events (0.65 per 100 resident-months) were identified. Of the adverse drug events, 1 was fatal, 31 (6%) were life-threatening, 206 (38%) were serious, and 308 (56%) were significant. Overall, 51% of the adverse drug events were judged to be preventable, including 171 (72%) of the 238 fatal, life-threatening, or serious events and 105 (34%) of the 308 significant events (P < 0.001). Errors resulting in preventable adverse drug events occurred most often at the stages of ordering and monitoring; errors in transcription, dispensing, and administration were less commonly identified. Psychoactive medications (antipsychotics, antidepressants, and sedatives/hypnotics) and anticoagulants were the most common medications associated with preventable adverse drug events. Neuropsychiatric events were the most common types of preventable adverse drug events. CONCLUSIONS: Adverse drug events are common and often preventable in nursing homes. More serious adverse drug events are more likely to be preventable. Prevention strategies should target the ordering and monitoring stages of pharmaceutical care.

Accidental Falls↗
PubMed2000

Cutaneous T cell lymphoma mimicking cutaneous histiocytosis: differentiation by flow cytometry.

A two-year-old, neutered female cross-bred labrador had multiple cutaneous nodules, biopsies of which revealed pathological changes consistent with cutaneous histiocytosis. During a period of one month the dog developed multicentric lymphadenopathy, a retrobulbar mass and masses within the quadriceps and cervical muscles. Fine needle aspiration cytology of the cutaneous nodules and lymph nodes and histological examination of the cutaneous nodules and muscle masses suggested the presence of lymphoblastic lymphoma. A definitive diagnosis of CD8+ T cell lymphoma was achieved by immunophenotyping the tumour cells by flow cytometry.

Animals↗
PubMed2000

Development and durability of measles antigen-specific lymphoproliferative response after MMR vaccination.

The correlates of long-term protection from measles infection are poorly understood. We followed the development of measles-specific antibody and lymphoproliferative (LP) responses in 60 children for 6 months after MMR vaccination. Prevaccine plaque reduction neutralization antibody (PRN Ab) values were low (mean+/-SEM 9.9+/-1. 1). Ninety-three percent (56/60) had excellent PRN values at 6 months (PRN 1816+/-207). Prevaccine LP activity was also low (stimulation index (SI)=1.4+/-0.1) but increased rapidly (SI 10. 7+/-4.5 at 2-3 weeks; p<0.05). However, only 61% (37/60) of the children had both significant cellular and antibody responses (SI>/=3 and PRN>/=120: Ab(hi)CMI(hi)). One child had a strong LP response (SI=6.7) despite little antibody production (PRN=19 at 6 months: Ab(lo)CMI(hi)). We also conducted a cross-sectional study in a separate group of 87 children 5-13 years after MMR vaccination. PRN values >/=120 were present in most children at 5-8 (n=28) and 9-13 years (n=59) after vaccination (PRN 550+/-120 and 360+/-60, respectively) but a significant minority had either undetected or 'subprotective' values (29 and 34%, respectively). LP responses (SI>/=3) were detectable in 19/28 (66%) and 36/59 (56%) of the children 5-8 and 9-13 years after vaccination (SI 11.4+/-2.4 and 7. 75+/-1.9, respectively). Almost two thirds (18/28) of the children in the cross-sectional study with low or absent antibody titers (PRN 41+/-6) had strong LP responses to measles antigens (SI 6.8+/-1.3). These data suggest that LP responses may be better sustained than antibody titers in some children. The susceptibility of Ab(lo)CMI(hi) children to infection and the value of the early LP response for predicting the durability of immunity remain to be determined.

Adolescent↗
PubMed2000

Epidermal growth factor up-regulates CD44-dependent astrocytoma invasion in vitro.

CD44/hyaluronan interactions and epidermal growth factor (EGF) stimulation are both known to enhance tumour invasion in vitro. The frequent amplification of the EGF receptor (EGFR) in high-grade astrocytomas led to the examination of the hypothesis that CD44-dependent astrocytoma invasion is regulated by EGF. It has been shown that human astrocytoma cells express only the standard (haemopoietic) form of CD44 (CD44s) and that EGF up-regulates CD44 mRNA and protein in a time- and dose-dependent (10-100 ng/ml) manner. EGF stimulation did not result in induction of additional splice variants. No EGF-induced increase in CD44s was observed after treatment of cells with the wild-type EGFR tyrosine kinase inhibitor Tyrphostin AG1478 (30 nM). Up-regulation of CD44 by EGF is also prevented by the transcriptional inhibitor actinomycin D (5 microg/ml) and by blocking the MAP kinase (MAPK) pathway using the MEK inibitor U0126 (100 microM). CD44 up-regulation was associated with a 50% increase in invasion through hyaluronan-supplemented Matrigel(trade mark), which was abrogated by ligating CD44 with the specific antibody KM201. These results suggest that increased CD44 expression in response to EGF stimulation plays a significant role in astrocytoma invasion.

Astrocytoma↗
PubMed2000

Complicated stent supported cerebrovascular angioplasty: case analyses and review of literature.

BACKGROUND: Hemodynamic lesions of the cervicocerebral vasculature are currently being treated with stent supported percutaneous transluminal angioplasty. These procedures have met with increasing success when compared to the risks and morbidity of more invasive surgical approaches. The versatility of stent-supported angioplasty as a primary therapeutic modality is examined in the following complex cases. CASE DESCRIPTION: We present four cases involving cervical angioplasty with emergent or adjunctive stent placement. Two cases involved the subclavian arteries, whereas the others involved the vertebral and internal carotid arteries. In our experience, complications of cervicocerebral artery angioplasty have been successfully managed by stent placement. CONCLUSION: Our cases demonstrate the emerging role of cervical angioplasty and stent implantation as a successful therapeutic modality, highlighted in these complex cases.

Aged↗
PubMed2000

Patients' perspectives on services for epilepsy: a survey of patient satisfaction, preferences and information provision in 2394 people with epilepsy.

The objectives of this study were to provide a comprehensive survey of satisfaction with care, care preferences and information provision for patients with epilepsy, and to formulate recommendations for the development of epilepsy services based on the findings. A questionnaire was distributed to 4620 patients who were currently receiving antiepileptic drugs for epilepsy, regardless of aetiology, duration or severity. Two different samples of patients with epilepsy were questioned: the first an unselected sample drawn from primary care, and the second consisting of consecutive patients drawn from hospital clinics. There were 2394 responses to the questionnaire. Satisfaction with primary and hospital care was high, both overall and for specific aspects. However, two major shortcomings were identified. First, few respondents felt that their care was shared between hospital and GP. Secondly, provision of information about epilepsy was perceived to be poor, particularly by the elderly. Younger patients and patients with severe epilepsy had a higher satisfaction with and preference for hospital care, whereas older age groups were more satisfied with and preferred primary care. Patients' main reasons for preferring primary care were that it was more personal and the GP was more familiar with them, and secondary care was preferred because the hospital doctor knew more about epilepsy. In conclusion, we have conducted the largest representative UK survey of patients' perceptions and views of the care available for epilepsy. Although patient satisfaction was high, information provision is poor and the shared care model is not operating effectively. We recommend that an emphasis be placed on methods for improving the interface between primary and secondary care. The setting up of hospital epilepsy centres, as recommended by the recently published Clinical Standards Advisory Group report on epilepsy, would provide a focus for these efforts and for information provision.

Adolescent↗
PubMed2000

NHS services for epilepsy from the patient's perspective: a survey of primary, secondary and tertiary care access throughout the UK.

The aims of this study were to estimate the proportion of patients with epilepsy who made primary care and/or hospital outpatient medical consultations within 1 year; to formulate a model of the explanatory variables that influence whether patients consult or not; and to estimate the frequency of referral to, and waiting time for, hospital outpatient clinics in patients with new-onset seizures. Suggestions are offered for improvement of epilepsy services based on the findings. A questionnaire was distributed to 3455 unselected patients identified at population level from primary care practices in all NHS regions of the UK. There were 1652 respondents with epilepsy of all types, irrespective of aetiology, duration or severity. Fifty-two per cent of the whole sample made at least one medical consultation of any type specifically for epilepsy (42.0% primary care, 30.5% hospital, 20.4% both). Most patients with controlled epilepsy (74.5%) had no consultations. Of patients with severe epilepsy, 27.5% made no primary care consultations, 43.4% no hospital consultations and 14.1% no consultations of either type. Gender did not influence the likelihood of either GP or hospital consultations in patients with either controlled or active epilepsy. Increasing seizure frequency was associated with a greater likelihood of one or more hospital consultations for epilepsy, whereas increasing duration of epilepsy was associated with a decreased likelihood of either type of consultation. Age affected consultation rates: of those patients over the age of 65 years, only 29.9% made a medical consultation for epilepsy, compared to 53.8% of young adults. Patients under the age of 17 years were less likely to have consulted a GP and more likely to have consulted a hospital doctor. Ninety percent of new-onset patients had been referred to a hospital doctor, and the mean wait was 6.5 weeks. In conclusion, many patients with epilepsy, including severe epilepsy, are not receiving specialist input, and a significant proportion are receiving no medical supervision. The elderly are over-represented in this group. Care tends to be polarized between hospital or primary care, falling short of the ideal of shared care. It will be important to address the influences on consultation seeking in epilepsy, particularly for those patients currently under no medical supervision.

Adolescent↗
PubMed2000

Risk factors associated with glucocorticoid-induced adverse effects in children with severe asthma.

BACKGROUND: Although high-dose inhaled glucocorticoids (GCs) with or without chronically administered oral GCs are often used in children with severe persistent asthma, the adverse effects associated with their use have not been well-described in this patient population. OBJECTIVE: We sought to determine the GC-induced adverse effects profile of older children with severe persistent asthma. METHODS: A chart review of 163 consecutive children 9 years of age or older admitted to National Jewish for difficult to control asthma was done. RESULTS: The population studied consisted mostly of adolescents (mean +/- SD age, 14.4 +/- 2.1 years) with severe asthma receiving high-dose inhaled GC therapy (1675 +/- 94 microg/d) and averaging 6 systemic GC bursts per year. 50% required chronic oral GC therapy. GC-associated adverse effects were common and included hypertension (88%), cushingoid features (66%), adrenal suppression (56%), myopathy (50%), osteopenia (46%), growth suppression (39%), obesity and hypercholesterolemia (30%), and cataracts (14%). Height standard deviation scores of -0.44, -1.22, and -0.93 for those receiving intermittent, alternate day, and daily oral GCs, respectively, were smaller (less suppressed) than published values from the same institution before inhaled GC therapy (standard deviation scores of -1.26, -1.91, and -1.95, respectively). Osteopenia was strongly associated with growth suppression (odds ratio, 5.6; confidence interval, 2.7-11.8; P <.0001) and was found to be more common in female than male subjects, even after correcting for short stature (42% vs 18%, P <.006). CONCLUSIONS: GC-associated adverse effects are still unacceptably common among children with severe asthma, even in those not receiving chronically administered oral GC therapy yet receiving high-dose inhaled GCs. Therefore close monitoring and proper intervention are warranted, especially in female subjects, who appear to be at greater risk for osteopenia. There is clearly a need to consider alternative therapy or earlier intervention. The magnitude of growth suppression, while still a problem, appeared to be less severe with the addition of inhaled GC therapy. This observation suggests that high-dose inhaled GC therapy, by affording better asthma control and allowing less use of systemic therapy, has attenuated the growth-suppressive effects of poorly controlled asthma.

Adolescent↗
PubMed1999

Use of aspirin, beta-blockers, and lipid-lowering medications before recurrent acute myocardial infarction: missed opportunities for prevention?

BACKGROUND: For patients who have had a previous myocardial infarction (MI), the use of aspirin, beta-blockers, and lipid-lowering agents reduces the risk of recurrent MI and death. OBJECTIVE: To examine trends in and determinants of receipt of these 3 medications before hospitalization for recurrent acute MI (AMI). METHODS: The study population consisted of 1710 patients with a previous history of MI hospitalized with a validated recurrent AMI in all hospitals in Worcester, Mass, during 1986, 1988, 1990, 1991, 1993, and 1995. Logistic regression analyses were used to assess the effect of demographic, clinical, and temporal factors on the receipt of aspirin, beta-blockers, and lipid-lowering medications before hospital admission for recurrent AMI. RESULTS: More than 47% of patients in each study year were not receiving each medication before admission, although significant increases in use were noted over time for aspirin (from 13.5% to 52.6%), beta-blockers (from 33.2% to 44.4%), and lipid-lowering medications (from 0.8% to 11.7%). In multivariate analyses, advancing age was associated with not receiving aspirin (odds ratio [OR], 0.67; 95% confidence interval [CI], 0.51-0.89), lipid-lowering medications (OR, 0.14; 95% CI, 0.08-0.25), and beta-blockers (OR, 0.75; 95% CI, 0.57-1.00), although this effect was of borderline significance for beta-blockers. Being a woman was associated with not receiving aspirin (OR, 0.78; 95% CI, 0.62-0.98) but was positively associated with receiving lipid-lowering medications (OR, 1.59; 95% CI, 1.04-2.43). Coexisting medical conditions and concurrent use of other cardiovascular medications were also associated with receipt of each medication. CONCLUSION: Despite encouraging increases over time, the low absolute levels of receipt of medications shown to be efficacious in the long-term treatment of patients after an MI, and their variation by age and sex, suggest that substantial opportunities may exist to prevent recurrent AMIs through the increased use of aspirin, beta-blockers, and lipid-lowering medications.

Adrenergic beta-Antagonists↗
PubMed1999

Prediction of early-onset asthma in genetically at-risk children.

The W.T. Grant Foundation Asthma Risk Study was designed to prospectively examine children who were considered at a genetically increased risk for the development of asthma. The respective contributions of 11 potential risk factors, both environmental and biological, were assessed in order to determine their relative roles in affecting the early onset of asthma. This is a report of an inception cohort of children born to asthmatic mothers and followed for a 3-year period. All 150 families were recruited from the general community and living within 2 h of the National Jewish Center for Immunology and Respiratory Medicine (Denver, CO). Mothers in the index risk sample had been previously diagnosed with asthma and were recruited during their pregnancy through physician referrals and media solicitation. The index sample of 150 families was 92% Caucasian and predominantly middle class. The mean age of mothers was 29.3 years, and of fathers, 31.1 years. The main outcome was the determination of the early onset of asthma and its association with quantified risk factors. By age 3 years, 14 of the 150 children had developed asthma. Frequent illness, IgE levels at age 6 months, parenting difficulties, and early eczema were significantly associated with the onset of asthma (P = 0.003, P = 0.006, P = 0.01, and P = 0.03, respectively). Only frequent illness, elevated serum IgE levels, and parenting difficulties entered a predictive model where they were independently related to the development of asthma.

Age of Onset↗
PubMed1999

Variation in length of hospital stay in patients with community-acquired pneumonia: are shorter stays associated with worse medical outcomes?

PURPOSE: To assess the variation in length of stay for patients hospitalized with community-acquired pneumonia and to determine whether patients who are treated in hospitals with shorter mean stays have worse medical outcomes. SUBJECTS AND METHODS: We prospectively studied a cohort of 1,188 adult patients with community-acquired pneumonia who had been admitted to one community and three university teaching hospitals. We compared patients' mean length of stay, mortality, hospital readmission, return to usual activities, return to work, and pneumonia-related symptoms among the four study hospitals. All outcomes were adjusted for baseline differences in severity of illness and comorbidity. RESULTS: Adjusted interhospital differences in mean length of stay ranged from 0.9 to 2.3 days (P <0.001). When the risk of each medical outcome was compared between patients admitted to the hospital with the shortest length of stay and those admitted to longer stay hospitals, there were no differences in mortality [relative risk (RR) = 0.7; 95% CI, 0.3 to 1.7], hospital readmission (RR = 0.8; 95% CI, 0.5 to 1.2), return to usual activities (RR = 1.1; 95% CI, 0.9 to 1.3), or return to work (RR = 1.2; 95% CI, 0.8 to 2.0) during the first 14 days after discharge, or in the mean number of pneumonia-related symptoms 30 days after admission (P = 0.54). CONCLUSIONS: We observed substantial interhospital variation in the lengths of stay for patients hospitalized with community-acquired pneumonia. The finding that medical outcomes were similar in patients admitted to the hospital with the shortest length of stay and those admitted to hospitals with longer mean lengths of stay suggests that hospitals with longer stays may be able to reduce the mean duration of hospitalization for this disease without adversely affecting patient outcomes.

Adult↗
PubMed1999

Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis.

Papillon-Lefèvre syndrome, or keratosis palmoplantaris with periodontopathia (PLS, MIM 245000), is an autosomal recessive disorder that is mainly ascertained by dentists because of the severe periodontitis that afflicts patients. Both the deciduous and permanent dentitions are affected, resulting in premature tooth loss. Palmoplantar keratosis, varying from mild psoriasiform scaly skin to overt hyperkeratosis, typically develops within the first three years of life. Keratosis also affects other sites such as elbows and knees. Most PLS patients display both periodontitis and hyperkeratosis. Some patients have only palmoplantar keratosis or periodontitis, and in rare individuals the periodontitis is mild and of late onset. The PLS locus has been mapped to chromosome 11q14-q21 (refs 7, 8, 9). Using homozygosity mapping in eight small consanguineous families, we have narrowed the candidate region to a 1.2-cM interval between D11S4082 and D11S931. The gene (CTSC) encoding the lysosomal protease cathepsin C (or dipeptidyl aminopeptidase I) lies within this interval. We defined the genomic structure of CTSC and found mutations in all eight families. In two of these families we used a functional assay to demonstrate an almost total loss of cathepsin C activity in PLS patients and reduced activity in obligate carriers.

Aggressive Periodontitis↗
PubMed1999

Differences in discharge medication after acute myocardial infarction in patients with HMO and fee-for-service medical insurance.

OBJECTIVE: To assess the impact of fee-for-service (FFS) versus HMO medical insurance coverage on receipt of aspirin, beta-blockers, and calcium channel blockers at the time of hospital discharge following an acute myocardial infarction. DESIGN: Prospective, population-based study. SETTING: All 16 community and tertiary care hospitals in the metropolitan area of Worcester, Massachusetts. PATIENTS: The study population consisted of patients under 65 years of age hospitalized with a validated acute myocardial infarction in all hospitals in the Worcester (Massachusetts) Standard Metropolitan Statistical Area (1990 census estimate, 437,000) during 1986, 1988, 1990, 1991, and 1993. MEASUREMENTS AND MAIN RESULTS: After adjustment for demographic and clinical variables as well as study year, the odds ratios for receipt of each medication for patients with HMO insurance compared with FFS were 1.05 (95% confidence interval [CI] 0.77, 1.44) for aspirin, 1.32 (95% CI 0.98, 1.76) for beta-blockers, and 0.72 (95% CI 0.54, 0.96) for calcium channel blockers. Examination of temporal trends in utilization of these agents suggests that observed decreases in use of calcium channel blockers and increases in use of beta-blockers over the period under study occurred more rapidly for HMO than for FFS patients. CONCLUSIONS: Overall, use of aspirin and beta-blockers was comparable among HMO and FFS patients and use of calcium channel blockers (deemed less effective or ineffective for secondary prevention) was lower among HMO patients. Differential adoption, over time, of evidence-based prescribing practices for medications between HMO and FFS patients who have had a myocardial infarction warrants further study.

Adrenergic beta-Antagonists↗
PubMed1999

Superficial angiomyxoma: clinicopathologic analysis of a series of distinctive but poorly recognized cutaneous tumors with tendency for recurrence.

Despite being first described in 1988, superficial angiomyxoma is still a poorly recognized cutaneous tumor. Although its histologic features are distinctive, its existence seems not to be widely accepted. We analyzed the clinicopathologic and immunohistochemical features in a series of 39 cases. Twenty-five patients were males; age range was birth to 82 years (median, 45.5 years). Most cases presented as cutaneous papules, nodules, or polypoid lesions. Seventeen tumors arose on the trunk, 14 on the head and neck, and seven on the lower limbs. All cases were treated by local excision, and eight recurred locally. In four of the latter cases, there were two recurrences. Histologically, the lesions were dermal with variable involvement of the subcutis. Tumors were poorly circumscribed, but a focal lobular outline was always identified. Distinctive histologic features included extensive myxoid stroma, numerous small blood vessels, varying cellularity, acellular mucin pools, stellate or bipolar fibroblastic cells, muciphages, a sparse, mixed inflammatory cell infiltrate with notable neutrophils, and occasional plumper cells with eosinophilic cytoplasm. Cytologic atypia was mild at most, and mitotic figures were rare. In approximately 20% of cases, the primary lesion or its recurrence contained epithelial structures, including epidermoid cysts, thin strands of squamous epithelium, and small buds of basaloid cells. Immunohistochemically, tumor cells were negative for S-100 protein, smooth muscle actin, and pan-keratin. We support the concept of superficial angiomyxoma as a distinctive clinicopathologic entity that should be included in the differential diagnosis of other myxoid cutaneous tumors, including dermal nerve sheath myxoma, trichodiscoma and trichofolliculoma, and low-grade myxofibrosarcoma.

Adolescent↗
PubMed1999

Adult smoking in the home environment and children's IQ.

In a sample of 3- and 5-yr.-old children, smoking in the home was found to be significantly and inversely related to IQ. Children of normal birth weight and without neurological impairment had been enrolled in a longitudinal study of child development. Analyses were conducted with sex, ethnicity, socioeconomic status, educational stimulation in the home, day care, and mother's intelligence controlled. Significant results were obtained for scores on the Peabody Picture Vocabulary Test-Revised at age three years and on the major Stanford-Binet Fourth Edition scales at ages three and five years. All effects were for the mother, not the father, smoking in the home.

Adult↗