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PubMed2004

Is inflammatory bowel disease an independent and disease specific risk factor for thromboembolism?

BACKGROUND: Patients with inflammatory bowel disease (IBD) are thought to be at increased risk of venous thromboembolism (TE). However, the extent of this risk is not known. Furthermore, it is not known if this risk is specific for IBD or if it is shared by other chronic inflammatory diseases or other chronic bowel diseases. AIMS: To compare the risk of TE in patients with IBD, rheumatoid arthritis, and coeliac disease with matched control subjects. PATIENTS AND METHODS: Study subjects answered a questionnaire assessing the history of TE, any cases of which had to be confirmed radiologically. A total of 618 patients with IBD, 243 with rheumatoid arthritis, 207 with coeliac disease, and 707 control subjects were consecutively included. All three patient groups were compared with control subjects matched to the respective group by age and sex. RESULTS: Thirty eight IBD patients (6.2%) had suffered TE. This was significantly higher compared with the matched control population with only 10 cases reported (1.6%) (p<0.001; odds ratio (OR) 3.6 (95% confidence interval (CI) 1.7-7.8)). Five patients with rheumatoid arthritis (2.1%) had suffered TE compared with six subjects (2.5%) in the control population matched to patients with rheumatoid arthritis (NS; OR 0.7 (95% CI 0.2-2.9)). TE had occurred in two patients with coeliac disease (1%) compared with four subjects (1.9%) in the control population matched to the coeliac disease group (NS; OR 0.4 (95% CI 0.1-2.5)). In 60% of TE cases in the IBD group, at least one IBD specific factor (active disease, stenosis, fistula, abscess) was present at the time TE occurred. CONCLUSIONS: IBD is a risk factor for TE. It seems that TE is a specific feature of IBD as neither rheumatoid arthritis, another chronic inflammatory disease, nor coeliac disease, another chronic bowel disease, had an increased risk of TE.

Adult↗
PubMed2003

CT evaluation of bone dehiscence of the superior semicircular canal as a cause of sound- and/or pressure-induced vertigo.

PURPOSE: To describe the computed tomographic (CT) findings at different collimation widths associated with superior semicircular canal (SSC) dehiscence syndrome and to determine the frequency of these findings in a control population. MATERIALS AND METHODS: Temporal bone CT scans with 1.0-mm and/or 0.5-mm collimation were obtained in 50 patients with sound- and/or pressure-induced vestibular symptoms. The control population consisted of 50 patients undergoing CT at 1.0-mm collimation and 57 patients undergoing CT at 0.5-mm collimation for other reasons. RESULTS: SSC dehiscence was documented on CT scans in all 36 patients with the clinical syndrome, with bilateral findings in six patients. Six other patients without specific clinical signs appeared to have dehiscence on 1.0-mm-collimated scans. Intact bone overlaying the SSC was subsequently identified with 0.5-mm-collimated CT in each case. On the 1.0-mm-collimated scans in 50 control patients, an area judged as possible or definite dehiscence was identified in 18 of 100 ears. The bone overlaying the SSC was intact in each of the 114 control ears evaluated with 0.5-mm-collimated CT. CT findings from the patients with vestibular symptoms combined with those in the control population indicated that the positive predictive value of an apparent dehiscence in the diagnosis of SSC dehiscence syndrome improved from 50% with 1.0-mm-collimated CT with transverse and coronal images to 93% with 0.5-mm-collimated CT with reformation in the plane of the SSC. CONCLUSION: The positive predictive value of CT in identification of SSC dehiscence syndrome improves with 0.5-mm-collimated helical CT and reformation in the SSC plane.

Adolescent↗
PubMed1997

Psychosocial outcomes and health status of adults who have had juvenile rheumatoid arthritis: a controlled, population-based study.

OBJECTIVE: The goal of this study was to evaluate the physical and psychosocial impact of juvenile rheumatoid arthritis (JRA) among a population-based cohort of adults who had the disease during childhood, compared with a control cohort of subjects with no history of JRA. METHODS: The Rochester Epidemiology Project database was used to identify all cases of JRA (based on the American College of Rheumatology [formerly, the American Rheumatism Association] 1977 criteria) among Rochester, Minnesota residents first diagnosed between January 1, 1960 and December 31, 1993. Controls were age- and sex-matched to the cases as of the date of diagnosis of JRA. A pretested postal survey was mailed to all adult cases (whose date of birth was before December 31, 1975) and matched controls from the same population, to obtain information on socioeconomic issues and functional status (using the Health Assessment Questionnaire and the Health Status Questionnaire). The complete medical records of all cases and controls were reviewed to obtain information on demographics and clinical manifestations of JRA. RESULTS: Of the 50 eligible cases, 44 (88%) responded to the survey. There were 102 age- and sex-matched controls (2-3 per case) who responded to the survey. Seventy-three percent of the cases had pauciarticular-onset JRA, 16% had polyarticular-onset JRA, and 11% had systemic-onset JRA. Average followup was 24.7 years and 24.5 years after the index date for cases and controls, respectively. Greater disability (P = 0.0002), more bodily pain (P = 0.0002), increased fatigue (P = 0.0112), poorer health perception (P = 0.0004), and decreased physical functioning (P = 0.0002) were reported by the cases compared with the controls. JRA cases reported significantly lower rates of employment (P = 0.015) and lower levels of exercise (P = 0.0002) than did controls. Level of educational achievement, annual income, health insurance status, and rate of pregnancy and childbirth were similar for both cases and controls. CONCLUSION: Adults who have had JRA during childhood experience long-term physical and psychosocial impairment.

Adolescent↗
PubMed1996

The relation between serum markers in the second trimester and placental pathology. A study on extremely small for gestational age fetuses.

OBJECTIVES: To examine whether in women who are delivered of an extremely small for gestational age infant, raised levels of second trimester maternal serum alpha-fetoprotein (MSAFP) or human chorionic gonadotrophin (MShCG) levels are related to the presence of placental pathology detected at birth. DESIGN: Retrospective cross-sectional study. SETTING: Department of Obstetrics and Gynaecology, Antenatal Diagnosis Unit, Groningen University Hospital, The Netherlands. PARTICIPANTS: Eighty-four women who were delivered of an extremely SGA infant (< 2.3rd centile) in whom the MSAFP and the MShCG levels were known and placental pathology reports were available (study group), and 8692 women in whom the MSAFP and MShCG levels were known and the pregnancy outcome was normal (control group). Pregnancies with congenital anomalies were excluded. Analyte levels were expressed in multiples of the median (MoM) for gestational age. Statistical analysis between groups was performed by ANOVA, after logarithmic transformation of the MoMs, to normalise their distribution. MAIN OUTCOME MEASURES: 1. The means of the MSAFP and MShCG concentrations in the study group with and without placental lesions were compared with those in the control population. 2. The means of the MSAFP and MShCG levels in the study group with placental lesions were compared with those in the study group without placental lesions. RESULTS: 1. Comparison of study groups with controls: in the study group without placental lesions, the mean log MSAFP MoM (0.062), as well as the mean log MShCG MoM (-0.033), was not significantly different (P = 0.11 and P = 0.68, respectively) from the mean analyte levels in the control population (0.002 and 0.006, respectively). The mean logs of these analytes in the study group with placental lesions (0.162 and 0.129, respectively) were significantly higher compared with the MSAFP and MShCG levels in the control population (P < 0.001 for both analytes). 2. Comparison of study groups with each other: the mean log of the MSAFP level of 0.162 in the group with placental lesions was significantly different from the mean of 0.062 of the study group without placental lesions (P < 0.025). The higher mean log MShCG MoM of 0.129 in the group with placental lesions was significantly different from the mean log MShCG MoM of -0.033 in the study group without placental lesions (P < 0.025). CONCLUSIONS: Raised levels of second trimester MSAFP and MShCG in women who are subsequently delivered of an extremely small for gestational age infant are related to the presence of pathological changes in the placenta, detectable at birth. It is speculated that these placental pathological changes, which frequently accompany small for gestational age pregnancies, have their origin in the second trimester, when the normal physiological changes of the placenta occur.

Analysis of Variance↗
PubMed2003

Higher incidence of depression preceding the onset of Parkinson's disease: a register study.

Although case histories of depression preceding Parkinson's disease (PD) point to a possible pathophysiological relationship between these two disorders, there is as yet no epidemiological evidence to support this view. We compared the incidence of depression in patients later diagnosed with PD with that of a matched control population. Using data from an ongoing general practice-based register study, the lifetime incidence of depressive disorder was calculated for patients until their diagnosis of PD and compared with that of a matched control population from the same register. At the time of analysis, the register held information on 105416 people. At the time of their diagnosis of PD, 9.2% of the patients had a history of depression, compared with 4.0% of the control population (chi(2) = 22.388, df = 1, P < 0.001). The odds ratio for a history of depression for these patients was 2.4 (95% CI: 2.1-2.7). We concluded that the higher incidence of depression in patients who were later diagnosed with PD supports the hypothesis of there being a biological risk factor for depression in these patients.

Aged↗
PubMed2006

The Obsessive Compulsive Scale of the Child Behavior Checklist predicts obsessive-compulsive disorder: a receiver operating characteristic curve analysis.

BACKGROUND: The purpose of this study was to determine a score on the Obsessive Compulsive Scale (OCS) from the Child Behavior Checklist (CBCL) to screen for obsessive compulsive disorder (OCD) in children and to rigorously test the specificity and sensitivity of a single cutpoint. METHODS: A receiver operating characteristic (ROC) curve analysis was applied to data from 61 patients with clinically determined OCD, 64 clinical controls and 73 general population controls to determine the best sum score on the CBCL-OCS to predict confirmed OCD in children. Using the ROC-determined cutoff, this score was applied to a national sample of CBCL data from 2460 singleton children ages 4-18 and to 20,016 children ages 7-18 from three large general population twin samples to determine the estimated prevalence in the general population. RESULTS: Using a CBCL-OCS score of 5 demonstrated an area under the curve (AUC) of .88 with high sensitivity (92%) and moderate specificity (67%) compared to clinical controls. Compared to the general population controls, the AUC was .96 with high sensitivity (92%) and specificity (89%). In the twin samples, the number of participants with CBCL-OCS scores above this cutpoint was 2.3-7.1%. CONCLUSIONS: These findings suggest that the OCS of the CBCL may provide a highly effective way to screen for childhood OCD, and that the prevalence of childhood OCD may have been underestimated, thus prompting the need for further research into screening children for this condition.

Adolescent↗
PubMed2003

Adverse events with rhGH treatment of patients with chronic renal insufficiency and end-stage renal disease.

OBJECTIVE: Recombinant human growth hormone (rhGH) has been used to improve the growth retardation associated with chronic renal insufficiency (CRI) and end-stage renal disease. We determined the incidence of one of four targeted adverse events (AEs): malignancy, slipped capital femoral epiphysis (SCFE), avascular necrosis (AN), and intracranial hypertension (ICH). STUDY DESIGN: During a 6.5-year period, we prospectively assessed patients enrolled in the CRI, dialysis, and transplant registries of the North American Renal Transplant Cooperative Study. The availability of an untreated control population facilitated determining whether or not there was the association between the AE and rhGH treatment. RESULTS: Of the targeted AE, the only significant relation with rhGH treatment was the presence of ICH in patients with CRI; however, in all 3 instances, ICH occurred 2, 50, and 1131 days after discontinuation of rhGH. Considering that the mechanism of ICH in rhGH-treated patients is thought to be increased CSF production, rhGH probably had no role in the development of ICH in at least 2 of the 3 patients with CRI. A number of nontargeted AE were identified that have been associated with rhGH treatment in patients without renal disease. The incidence of glucose intolerance, pancreatitis, progressive deterioration of renal function, acute allograft rejection, and fluid retention were not more frequent in those receiving rhGH treatment compared with the control population. CONCLUSIONS: This report validates the importance of a control population in ascribing AE to any therapeutic intervention. Previously identified AE associated with rhGH treatment are infrequent in patients with CRI and end-stage renal disease.

Adolescent↗
PubMedDate not supplied

The zero-plus first metatarsal and its relationship to bunion deformity.

The relationship between first metatarsal length and hallux valgus (HV) deformity was examined. Retrospectively, 210 randomly selected radiographic files were reviewed between 1988 and 1993. The morbid population consisted of 110 feet with HV deformities. The control population consisted of 100 healthy feet (no deformity). Seventy-seven percent of the patients with HV deformity had a first metatarsal length that was equal to or longer than the second metatarsal. This was defined as a zero-plus first metatarsal. Only 28% of the control population had this same proportion in length. Thus, prevalence of zero-plus first metatarsal was significantly associated with HV formation (chi(2)(1) = 51.15, P <.001). The mean first metatarsal protrusion distance was significantly higher in the bunion population (+1.58 mm) than in the control patients (-2.05 mm) (P <.001). The distribution of head shape differed significantly between the patients with HV and control patients; patients with HV had predominantly round heads (91%) and the control patients had predominantly square and square with a ridge heads (80%) (chi(2)(2) = 107.7, P <.001). All zero-plus first metatarsals in the HV population had a round first metatarsal head. Only 7.1% of the control patients had a round head with a zero-plus metatarsal. There was a positive relationship between the protrusion distance of the first metatarsal and the severity of the intermetatarsal angle, particularly in those patients with intermetatarsal angles ranging from 13 degrees to 20 degrees (P <.01). It was concluded that a zero-plus first metatarsal is a significant etiologic factor in the development of bunion deformity and should be part of the preoperative evaluation.

Hallux Valgus↗
PubMed1996

Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations.

Inherited mutations in the BRCA1 gene are known to confer a predisposition to breast and ovarian cancer. We have first characterized 19 sequence variants in the BRCA1 gene during mutation screening by direct sequencing using DNA samples from breast/ovarian cancer patients or obligate carriers. The frequencies of these sequence variants were then compared with those found in control populations of women. Among the 10 sequence variants showing an estimated frequency of the less common allele above 0.05, Q/R356, L/P871, E/G1038, K/R1183 and S/G1613 result in a change of amino acids, 2201C/T, 2430T/C and 4427C/T are silent mutations and the two others, 4209-141C/A and 5272 + 66A/G, are intronic polymorphisms. These frequent polymorphisms, with the exception of Q/R356, were in complete or significant pairwise linkage disequilibrium as evaluated in our control populations. With one exception (L/P871), none of these variants had statistically significant (P < 0.05) differences in allele frequency between breast/ovarian cancer patients or obligate carriers and our control populations. Four rare sequence variants designated 710C-->T, D693N, R841W and S1040N were found in both unaffected and breast/ovarian cancer populations, while the missense mutations M1008I, E1219D, R1347G, T1561I and M1628V were detected only once in our patient population. When a functional test is available, it will be important to determine the consequence on the BRCA1 activity of these rare sequence variants and missense mutations.

BRCA1 Protein↗
PubMed1994

The prevalence of Helicobacter pylori positivity in human immunodeficiency virus-infected children.

To investigate the prevalence of Helicobacter pylori infection in pediatric patients infected with the human immunodeficiency virus, we sought to detect the presence of antibodies against this organism in 23 human immunodeficiency virus-infected children of central African ethnic origin by means of a second-generation enzyme-linked immunoassay (ELISA) test for the detection of immunoglobulin G (IgG) antibodies to Helicobacter pylori (Malakit Helicobacter pylori, Biolab, Limal, Belgium). They were compared to an asymptomatic control population matched for age and ethnic origin. Blood samples were taken during routine blood analysis before the monthly administration of intravenous gamma-globulins in the human immunodeficiency virus-infected patients and during preoperative blood analysis in the control population. Despite the fact that most human immunodeficiency virus-infected patients had IgG antibodies against other frequently encountered pathogens, none of them had a positive serology for Helicobacter pylori, compared to 10 of 52 patients (19.2%) in the control population. This difference is statistically significant (p = 0.01).

Adolescent↗
PubMed2000

Corticotropin releasing hormone (CRH) promoter polymorphisms in various ethnic groups of patients with rheumatoid arthritis.

UNLABELLED: The regulatory region of the corticotropin releasing hormone (CRH) is highly conserved and plays a crucial role in the response of the organism to stress. Release of CRH initiates a cascade of events leading to the release of cortisone and the regulation of inflammatory and immune events. OBJECTIVE: Since it has been postulated that the impaired corticotropin releasing hormone (CRH) response to stress in patients with rheumatoid arthritis (RA) has a genetic basis, we investigated the distribution of CRH alleles in a cohort of UK patients as well as in South African RA patients. METHODS: Restriction fragment length polymorphism of PCR amplified DNA products of the CRH promoter. We compared the allele frequencies in the RA patients with the respective healthy control population described previously. RESULTS: As in the control populations we found two biallelic polymorphic sequences (named A1 and A2 and B1 and B2, respectively) in the CRH promoter which could be assigned to compound alleles. The A2B1 compound allele was protective against development of RA in a large group of UK Caucasoid patients (p = 0.03; odds ratio 0.43, 95% confidence interval 0.21-0.88). In contrast, A1B1 was positively associated with RA in a cohort of black South African RA patients (p = 0.05; odds ratio 1.78, 95% confidence interval 1.01-3.15). CONCLUSION: Taken together, these findings support the hypothesis that CRH promoter polymorphism represents a new genetic marker for RA susceptibility and may prove useful for the prediction of RA risk in the future when further genetic and environmental risk factors are determined.

Adult↗
PubMed1993

Genetic control of population structure in heterogeneous strains of methicillin resistant Staphylococcus aureus.

Cultures of heterogeneous strains of methicillin resistant Staphylococcus aureus are composed of several subpopulations of cells that differ in their level of antibiotic resistance and frequencies. Experimental evidence is presented indicating that the number of these subpopulations, their resistance level and the frequency with which they are represented in a culture are strain-specific and reproducible with a surprising degree of precision from one culture to another. This implies a genetic control of population structure in these bacteria.

Electrophoresis, Gel, Pulsed-Field↗
PubMed2006

Predictive factors for masked hypertension within a population of controlled hypertensives.

CONTEXT: Prevalence of masked hypertension (MH) is far from negligible reaching 40% in some studies. The SHEAF study (Self measurement of blood pressure at Home in the Elderly: Assessment and Follow-Up) and others clearly showed that masked hypertension (MH) as detected by home blood pressure measurement (HBPM) is associated with poor cardiovascular prognosis. OBJECTIVE: Systematic HBPM to detect MH is not yet routine. The aim of this work is to better define the clinical profile of masked hypertensives within a population with controlled office blood pressure (BP) and the factors associated with a higher prevalence of MH. MATERIALS AND METHODS: BP was measured at the clinic by the doctor and at home by the patient himself. Risk factors for MH were analysed in a cohort of 1150 treated hypertensive patients over the age of 60 (mean age 70 +/- 6.5, 48.9% men) with controlled office BP. (SBP < 140 mmHg and DBP < 90 mmHg). RESULTS: 463 patients (40%) were masked hypertensives (SBP > or = 135 mmHg or DBP > or = 85 mmHg at home). Three parameters were associated with MH (odds ratio OR): office SBP (OR = 1.110), male gender (OR = 2.214) and age (OR = 1.031). Decision trees showed a 130 mmHg SBP was an efficient threshold to propose HBPM with a higher probability to detect MH. Subsequent variables were male gender and age over 70 in males. CONCLUSION: To detect masked hypertension, it would be logical to first of all select patients whose office SBP is between 130 and 140 mmHg.

Adolescent↗
PubMed2001

Quality of life in patients at risk of medullary thyroid carcinoma and followed by a comprehensive medical network: trends for future evaluations.

BACKGROUND: As shown in a previous study, the knowledge of the genetic risk in individuals belonging to families at risk of medullary-thyroid carcinoma (MTC) could be associated with impaired quality of life (QoL). PATIENTS AND METHODS: In the present study, we compared the QoL scores obtained in the same period with the subjective quality of life profile (SQLP): in 82 individuals at risk of MTC who had been tested for Ret-mutations; in 200 women at risk of familial breast/ovarian cancer syndrome (BOC); and in a control population of 3,501 healthy volunteers. RESULTS: Significant differences were observed in favour of healthy volunteers as well as individuals at risk of MTC, over women at risk of BOC (mean scores: 0.89, 0.85, and 0.64, respectively, P < or = 0.001), but QoL scores were not statistically different between individuals at risk of MTC and the control population (P = 0.2). However, they were significantly inferior in the subgroup of germline Ret-mutation carriers, as compared to the control population (mean scores: 0.73 and 0.89, P = 0.04). In the latter, the relationships with the children and the family were the most important facets of their QoL. CONCLUSION: Our results confirm the potentially negative impact of the knowledge of the genetic risk of cancer and its consequences in terms of morbidity and follow-up, on the QoL in people followed at oncogenetic visits.

Adolescent↗
PubMed1998

Gonadal status is an important determinant of bone density in acromegaly.

OBJECTIVE: To measure bone mineral density (BMD) in patients with acromegaly and to look for clinical features which may explain previously reported discrepant results. DESIGN: Prospective case controlled observational study. PATIENTS: 18 patients with acromegaly (seven women, 11 men; mean age 53.2 +/- 3.5 years). Eight patients had active disease and 10 had controlled acromegaly. Growth hormone and insulin-like growth factor-1 (IGF-1) concentrations were measured to assess disease activity. MEASUREMENTS: BMD was measured at four sites on the lumbar spine, three at the femoral neck and at Ward's triangle using a Hologic dexa scanner. Results were compared to a locally determined control population (n = 1800). In eight patients with active acromegaly, urinary free pyridinoline and deoxypyridinoline, and serum osteocalcin, propeptide of type 1 procollagen, vitamin D, 1000 h parathyroid hormone, bone specific alkaline phosphatase, calcium and phosphate concentrations were measured before and after 6 months treatment with octreotide. RESULTS: The mean BMD for all acromegalic patients was not significantly different from the control population except at the femoral neck where it was increased (P = 0.05). At all sites, the BMD of patients who had been hypogonadal (n = 12/18) was significantly lower (P < 0.05-0.01) than that of patients who had been eugonadal (n = 6/18). BMD for hypogonadal patients was lower than the control population at Ward's triangle (P = 0.03). Eugonadal acromegalic patients had BMD greater than non-acromegalic controls at all sites. Patients with controlled acromegaly had a higher BMD than non-acromegalic controls, but there were no differences in BMD between patients with active and controlled acromegaly. Serum IGF-1 concentrations decreased from 64.5 +/- 5.1 nmol/l to 37.5 +/- 6.9 nmol/l (P = 0.02) after 6 months treatment with octreotide, but there was no change in any of the biochemical markers of bone turnover. CONCLUSIONS: Eugonadal acromegalic patients have increased lumbar spine and femoral neck BMD compared to hypogonodal acromegalic patients and the general population, but it is reduced if patients have been hypogonadal.

Acromegaly↗
PubMed2003

Is the long-term survival of patients with intracranial glioblastoma multiforme overstated?

BACKGROUND: The 5-year survival rate for intracranial glioblastoma multiforme (GBM) has remained at 4-5% for the last 30 years, in spite of multiple randomized prospective trials. The authors hypothesized, based on the literature, that even this remarkably poor survival rate is an overstatement. They investigated this hypothesis using the the Duke University Medical Center Tumor Registry. METHODS: The authors reviewed all patients with the diagnosis of intracranial GBM recorded in the Duke University Medical Center Tumor Registry from the registry's inception in 1976 through 1996. This search identified a population of patients with a minimum of 5 years of follow-up. Each of the long-term survivors was assigned a code number for clinical information. The pathology slides were provided to a neuropathologist in a coded fashion so that the patients could not be identified. The neuropathologist reviewed the slides to analyze the presence or absence of nine histologic factors. A match technique was used to identify a control population of patients with GBM who were not 5-year survivors and were all deceased. The control population was compared with the study population to ascertain if there are histologic correlates associated with long-term survivorship. RESULTS: The authors identified 766 patients recorded by the tumor registry as having an intracranial GBM with a minimum of 5 years of follow up. Of the total population, 32 patients initially appeared to be 5-year survivors (4%). Upon review of the medical records for these 32 patients, however, the authors found only 17 patients who were truly 5-year survivors. The most common reason for miscoding was the presence of a low-grade astrocytoma that subsequently dedifferentiated into GBM. The 17 long-term survivors included 11 males and 6 females. Their mean age at diagnosis was 40.2 years. Therapy consisted of a macroscopic total resection in 4 patients (22%), a biopsy in 1 patient (6%), a subtotal resection in 10 patients (56%), and unknown extent of resection in 2 patients (11%). All patients received partial brain irradiation (mean dose, 62.6 Gy) and chemotherapy. Thirteen different single-agent or combination chemotherapy programs were used. Two patients also received I-131 monoclonal antibody therapy. Analysis of the nine histopathologic factors studied showed that intermediate fibrillary elements were more common and small anaplastic elements were less common in the long-term survivors than in the control population. CONCLUSIONS: Survival data on intracranial GBM, based on tumor registry data, should be interpreted cautiously. Reliable conclusions can only be drawn when such data are supplemented with clinical information and the histopathology is reviewed carefully. The group of long-term survivors in the current study were younger than the typical GBM population. Conventionally treated patients with GBM, chosen from an unselected population from a tumor registry, have a smaller chance of long-term survival than is generally believed.

Adolescent↗
PubMed2000

Mutation screening of the CDKN2A promoter in melanoma families.

Germline mutations of CDKN2A, at 9p21, are responsible for predisposition to melanoma in some families. However, evidence of linkage to 9p21 has been demonstrated in a significant proportion of kindreds with no detectable mutations in CDKN2A. It is possible that mutations in noncoding regions may be responsible for predisposition to melanoma in these families. We have analyzed approximately 1 kb of the CDKN2A promoter upstream of the start codon in an attempt to identify causal mutations in 107 melanoma families. Four sequence variants were detected. Two of these (A-191G and A-493T) did not segregate with disease and were present in a control population at a comparable frequency, indicating that they are unlikely to predispose to melanoma. The A-493T variant appeared to be in linkage disequilibrium with the previously described CDKN2A polymorphism Ala148Thr. The variant G-735A was detected in the control population, but segregation of this variant with melanoma within families could not be discounted. The fourth variant (G-34T), located in the 5' UTR, creates an aberrant initiation codon. This variant appeared to segregate with melanoma and was not detected in a control population. G-34T has recently been identified in a subset of Canadian melanoma families and was concluded to be associated with predisposition to melanoma. The creation of an aberrant initiation site in the 5' UTR may have an important role in carcinogenesis in a small percentage of families; however, mutations in the CDKN2A promoter appear to have a limited role in predisposition to melanoma.

Adolescent↗
PubMed1992

Diabetes in an elderly population. A controlled study of morbidity and outcomes.

OBJECTIVE: To determine in an elderly diabetic population the frequency of vascular and related disorders, the mortality, and outcomes compared with a matched control group. SETTING: The Queen Elizabeth Geriatric Centre, Ballarat, Victoria. METHOD: The medical records of all diabetics admitted between 1982 and 1987 inclusive, and a control group matched for age, sex and ward of admission were studied retrospectively. The presence of associated conditions and outcome parameters were entered in to a database and analysed statistically. RESULTS: Increased prevalence in individuals with diabetes of ischaemic heart disease (2.0:1.0), cerebrovascualr accident (1.9:1.0) and hypertension (1.5:1.0). Similar death rate, cumulative bed days, discharge destination and use of discharge services. CONCLUSION: Despite the more frequent presence of clinical vascular disease, an elderly population with diabetes had the same outcomes as matched controls and did not require more bed occupancy or use of community based services.

Aged↗