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Biomedical subjects

A Kempe

Publications and source records attributed to A Kempe.

At least 19 recordsLinked to original sources
PubMed2005

Analysis of the polymorphic prion protein gene codon 129 in idiopathic Parkinson's disease.

Idiopathic Parkinson's disease (IPD) is a neurodegenerative disorder of unknown aetiology. Histopathological similarities between IPD and Creutzfeldt-Jakob prion disease (CJD) have been suggested. Homozygosity at polymorphic prion protein gene codon 129 (PRNP129) is a risk factor for developing CJD. Therefore we investigated a putative genetic link between CJD and IPD by studying PRNP129 genotype segregation in 81 patients with IPD. We did not ascertain a different PRNP129 genotype distribution in IPD patients compared to healthy Germans. We found a significant difference in PRNP129 genotype in dependence of the clinical predominance type of IPD. Patients with tremor-dominant IPD presented less frequent a methionine homozygosis at PRNP129 than hypokinetic-rigid IPD patients (30% versus 62.5%; p<0.033). In conclusion, genotype distribution at codon 129 is obviously not essential in determining IPD. But our results may provide first evidence of an association between certain PRNP129 polymorphisms and the clinical presentation of IPD.

Adult↗
PubMed2003

HLA typing and Parkinson's disease.

Idiopathic Parkinson's disease (IPD) is a neurodegenerative disorder of unknown aetiology. Several antigens have been associated with IPD using serological methods. We systematically analysed HLA class I and II alleles in 45 German Caucasian IPD patients using sequence-specific oligonucleotides and sequence-specific primer technology. Applying Bonferroni adjusted p values, we demonstrate a statistically significant increase of the DQB1*06 allele (p = 0.002) in IPD which may indicate an association between IPD and the immune system. Alternatively, HLA alleles might be in linkage disequilibrium with genes located next to the HLA locus.

Adult↗
PubMed2002

Familial ovarian dysgerminomas (Swyer syndrome) in females associated with 46 XY-karyotype.

An asymptomatic woman (age 38 years) with a family history of ovarian malignancies was referred for presymptomatic genetic testing of mutations in the BRCA genes. A familial Swyer syndrome with the occurrence of dysgerminomas is the most likely diagnosis. However, in our case, all known causes of this heterogeneous disorder have been excluded pointing to the existence of another yet unknown genetic locus. The family history revealed three affected paternal aunts. Two of them developed ovarian malignancies at 13 and 15 years of age, and died at ages 19 and 20. The third aunt, 82 years old, was affected by this disease at the age of 35. She underwent hormonal treatment for 3 years starting at the age of 15 because of primary amenorrhea. Under this treatment she developed nearly complete secondary sexual characteristics. Karyotype analysis revealed a normal male karyotype (46 XY, QFQ). Pelvic ultrasound showed an uterus of normal size, incompatible with an androgen resistance syndrome or a defect in testosterone biosynthesis. We excluded a mutation in the sex-determining region on chromosome Y (SRY) by direct sequencing of the SRY gene. An involvement of the subtelomeric region of chromosome 9p (9p 24.3) recently reported to be involved in XY-sex reversal phenotypes was excluded by molecular testing for loss of heterozygosity as well as fluorescence in situ hybridization studies. Analyses of the DAX1 gene in the dosage sensitive sex reversal locus on chromosome Xp21 by Southern blot analysis showed no duplications.

17-alpha-Hydroxyprogesterone↗
PubMed2001

Immunization recall: effectiveness and barriers to success in an urban teaching clinic.

OBJECTIVE: To examine effectiveness of immunization recall in an urban pediatric teaching clinic and to identify barriers to recall effectiveness. DESIGN: Randomized, controlled trial. Children aged 5 to 17 months who were not up to date (UTD) with recommended immunizations were identified and assigned to intervention (n = 294) or control groups (n = 309). The intervention consisted of a mailed postcard and up to 4 telephone calls. Two months after intervention, UTD status, visit, and probable missed opportunity rates were assessed. RESULTS: Of the intervention group, 30% could not be reached. In 12-month-old children in the intervention group compared with those in the control group, there was a trend toward higher UTD rates (51% vs 39%, P =.07) and a higher proportion of UTD children receiving immunizations as opposed to getting more complete documentation (25% vs 10%, P =.005). Similar differences between intervention and control children were not seen in the 7-month and 19-month age categories. More children in the intervention group had a health maintenance visit (17% vs 11%, P =.03). Of children in the intervention group who were seen when not UTD, 17 of 24 (71%) of those seen for an illness visit and 5 of 24 (21%) of those seen for health maintenance probably had missed opportunities to be immunized. CONCLUSIONS: Recall efforts were partially successful but were undermined by inability to reach the clinic population, poor documentation of immunizations, and missed opportunities.

Child Health Services↗
PubMed2001

The impact of immunization record aggregation on up-to-date rates--implications for immunization registries in rural areas.

Problems with poorly documented immunization records may be especially important in rural areas. To evaluate the potential impact of a regional registry in a rural region, this study quantified the change in documented immunization rates for nine primary care sites in rural Colorado resulting from the addition of public health department immunization clinic records. Manual chart reviews of immunization data were conducted at both private primary care and public health department sites in two geographic areas in rural Colorado. Data from private primary care sites were matched to data from the public health department sites. Immunization up-to-date (UTD) rates at each primary care site were then recalculated for 12- and 24-month-olds after including data from public health department sites. Of 1,533 children, 469 (31 percent) were given immunizations at both a private primary care and a public health department site. The UTD rate (3:2:3:2) of 12-month-olds using only data from primary care sites ranged from 32 to 79 percent. Including the public health department data increased the rates by 0 to 26 percent (mean = 11 percent) for 12-month-old children. The UTD rate of 24-month-olds (4:3:1:3 and any Hib on/after 12 months) ranged from 6 to 54 percent at the primary care sites. These rates increased by 6 to 21 percent (mean = 12 percent) when public health department data were added. This "virtual" registry combining primary care and public health department data increased calculated immunization rates at primary care sites substantially, with a range of 0 to 26 percent.

Colorado↗
PubMed2001

Delivery of pediatric after-hours care by call centers: a multicenter study of parental perceptions and compliance.

BACKGROUND: Despite the rapid growth of centralized call centers to provide after-hours triage to patients of multiple providers, little is known about the perceptions of parents regarding this type of care and their compliance with triage disposition recommendations. DESIGN/METHODS: From August through September 1999, randomized samples of after-hours calls were selected each day from computerized records at 4 pediatric call centers at 1) Children's Hospital, Denver, Colorado; 2) Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; 3) Rainbow Babies and Children's Hospital, Cleveland, Ohio; and 4) All Children's Hospital, St Petersburg, Florida. All participating call centers use the same triage software. Calls were randomly selected to yield at least 250 callers with nonurgent dispositions and 100 with urgent dispositions from each site. Telephone surveys to callers were conducted by an external survey unit 3 to 7 days after the call to the call center. RESULTS: Surveys were completed for 70.5% of those sampled (N = 1561). Parents indicated they were very satisfied or satisfied with aspects of care received from 92.6% (waiting time) to 99.4% (nurse courteousness) of the time. Satisfaction did not differ by site or by recommended disposition of the index call. Most parents (65.2%) reported no preference about speaking with a physician or nonphysician for after-hours care, whereas 27.7% preferred to speak with a physician. Usually speaking with a physician during office hours (odds ratio [OR]: 1.48), feeling it was important that provider knows child's medical history (OR: 3.47), and respondent having an educational level of college graduate or higher (OR: 1.30) were significant predictors of preferring to speak with a physician. Of the 37.0% (N = 723) of parents who reported any change in their relationship with their primary provider as a result of the after-hours call center, 95.7% (N = 691) assessed the change to be positive. Reported compliance with the call center disposition recommendation was 83.3% for urgent referral, 41.0% for next day, 4.5% for visit at a later time, and 78.2% for home care. The major reason given by parents for noncompliance was reporting that they heard a different disposition (76.9% for urgent to 100% for visit at a later time). CONCLUSIONS: Parental satisfaction with pediatric call centers was uniformly high in 4 different geographic locations, and almost all parents who reported any effect on their relationship with their primary provider assessed it as positive. Compliance with recommendations for urgent evaluation or home care was relatively high but for intermediary dispositions was low. In most cases in which noncompliance occurred, parents reported hearing a different disposition. Additional study is needed to clarify whether noncompliance, especially in cases in which an urgent recommendations was made, is attributable to poor nurse communication of the recommended disposition, parental misinterpretation, or parental difference of opinion.

Community Health Services↗
PubMed2000

Appropriateness of urgent referrals by nurses at a hospital-based pediatric call center.

OBJECTIVES: To evaluate (1) the appropriateness of the after-hours referral (AHR), (2) clinical characteristics of urgently referred patients, and (3) parental compliance with disposition recommendations by the After-Hours Call Center of the Children's Hospital, Denver, Colo. SUBJECTS: Patients of Denver, Colo, pediatricians who called after office hours were triaged by nurses using a computerized triage system, and were referred for after-hours evaluation to 1 of 5 urgent care sites (N = 409). DESIGN: Data were collected at each site for 2-week periods every 3 months, from October 1996 to October 1997 (total study period, 10 weeks). Appropriateness of AHRs (diagnoses, clinical interventions, and final dispositions) were determined by a questionnaire that was completed by the evaluating physician. Parental compliance with the AHR was assessed by review of the after-hours site patient database and by telephone survey. RESULTS: Of the referred patients, 339 (82.9%) complied with the recommendation for AHR and, of these, physician questionnaires were completed for 332 (97.9%). The mean percentage of evaluated patients judged appropriate was 90.7% and did not differ statistically by site or by physician training. A history indicating a potentially serious condition was the most common reason for judging a referral appropriate (80.1%), followed by patient discomfort (53.3%), findings from a physical examination (42.5%), parental anxiety (41.5%), and an urgent need for diagnostic test or therapy (34.7%). Of evaluated patients, 37.0% had a diagnostic test, and in 43.5% of cases, the evaluating physician thought a therapeutic intervention was necessary that night. Of the total sample, 93.4% were discharged and 6.6% were admitted to the hospital. The major reasons given by families for noncompliance were lack of understanding of the disposition recommendation and disagreement with the need for urgent referral. CONCLUSIONS: Approximately 90% of patients who complied with a referral for urgent evaluation by the After-Hours Call Center were judged by the evaluating physician to have been appropriately referred. The appropriateness rate for all referrals may be lower if there is significant self-selection in those families who do not comply.

Algorithms↗
PubMed2000

[Erbium:YAG laser vitrectomy: temperature measurements in different replacement materials].

BACKGROUND: The erbium:YAG laser has the potential of being used routinely for vitrectomy because of the excellent quality of liquefying vitreous structures and the low vacuum forces required. However, the use of silicone oil and perfluorocarbon may lead to unwanted temperature increases in the microsurgery probe. The aim of this work was to investigate this side effect. MATERIALS AND METHODS: Different replacement materials such as water, methocel, silicone oil and perfluorocarbon were used in a simple eye model. The temperature increase during laser application was measured by means of thermocouples. The maximum temperature increase and time decay were derived with and without aspiration from these time-resolved measurements. The average power at the distal end of the microsurgery probe was chosen to be 1 W. RESULTS: The temperature increase with aspiration in water was found to be significantly smaller than all other replacement materials. Interruption of aspiration leads to a critical temperature increase of approximately 14 K; however, this increase occurred very slowly (decay time 200 s). A comparable result could be observed for methocel, which was used to simulate condensed vitreous structures. In perfluorocarbon and silicone oil we measured a far higher increase in temperature of up to 130 K within a few seconds. Furthermore, small remnants of carbonized materials can be seen in the microsurgery probe after laser application. CONCLUSIONS: The temperature increase during erbium:YAG laser vitrectomy in water can be considered to be harmless for other intraocular structures. However, insufficient aspiration or increased vitreous condensation leads to increased temperature in the microsurgery probe. Our results demonstrate that the use of erbium:YAG laser vitrectomy in materials such as silicone oil or perfluorocarbons is contraindicated.

Contraindications↗
PubMed2000

Re-vaccination of 421 children with a past history of an adverse vaccine reaction in a special immunisation service.

BACKGROUND: In Australia an adverse event following immunisation (AEFI), with the exception of anaphylaxis and encephalopathy, is no longer considered an absolute contraindication to continuing vaccination with the suspect vaccine. Despite these recommendations there is a paucity of information on the re-vaccination of such children. AIMS: To describe the re-vaccination of a large number of children with a past history of an AEFI. METHODS: A review of children attending special immunisation services in three Australian tertiary care paediatric centres. RESULTS: During the review 970 children attended of whom 469 had experienced a past AEFI. Of these, 293 had experienced minor while 176 children had experienced significant neurological or allergic reactions. The majority (421/469) were re-vaccinated, with only one child having a significant neurological event; this was transient and resolved spontaneously. CONCLUSIONS: Re-vaccination of children who have a past history of an AEFI appears safe. A special immunisation service should be part of a comprehensive immunisation programme.

Adolescent↗
PubMed2000

Breast MR imaging screening in 192 women proved or suspected to be carriers of a breast cancer susceptibility gene: preliminary results.

PURPOSE: To compare magnetic resonance (MR) imaging with conventional imaging in screening high-risk women. MATERIALS AND METHODS: This prospective trial included 192 asymptomatic and six symptomatic women who, on the basis of personal or family history or genetic analysis, were suspected or proved to carry a breast cancer susceptibility gene. RESULTS: Fifteen breast cancers were identified: nine in the 192 asymptomatic women (six in the first and three in the second screening round) and six in the symptomatic patients. Concerning the asymptomatic women, four of the nine breast cancers were detected and correctly classified with mammography and ultrasonography (US) combined; another two cancers were visible as well-circumscribed masses and were diagnosed as fibroadenomas. MR imaging allowed the correct classification and local staging of all nine cancers. In 105 asymptomatic women with validation of the 1st-year screening results, the sensitivities of mammography, US, and MR imaging were 33%, 33% (mammography and US combined, 44%), and 100%, respectively; the positive predictive values were 30%, 12%, and 64%, respectively. CONCLUSION: The accuracy of MR imaging is significantly higher than that of conventional imaging in screening high-risk women. Difficulties can be caused by an atypical manifestation of hereditary breast cancers at both conventional and MR imaging and by contrast material enhancement associated with hormonal stimulation.

Adult↗
PubMed2000

Quality of care and use of the medical home in a state-funded capitated primary care plan for low-income children.

OBJECTIVE: To evaluate the quality of care and use of the medical home in a state-funded capitated insurance plan for low-income children-the Colorado Child Health Plan (CCHP). DESIGN: A retrospective cohort study using medical record review at pediatric and family practice offices in 4 geographic areas of Colorado. At each practice, CCHP-enrolled children (6 months to 6.5 years) and 2 controls were selected, 1 with Medicaid (MK) and 1 with private insurance (PI), matched by date of birth to the CCHP-enrolled child (N = 596). CCHP-enrolled children with a diagnosis of asthma, aged 3 to 18 years, and asthmatic children with MK and PI, matched by age, were also selected from each practice (N = 139). RESULTS: Quality of preventive services were comparable in the 3 groups. CCHP-enrolled children made more health maintenance visits than MK-enrolled children (1.3 CCHP vs.9 MK vs 1.1 PI) and were more frequently screened for lead (8.1% CCHP vs 3.4% MK vs 1.2% PI) and anemia (5.0% CCHP vs 4.4% MK vs 2.4% PI) than children in either control group. Documented immunization rates were similar in the 3 groups, but a shift in location of immunization from public health clinics to the primary care site was seen in the CCHP group. CCHP-enrolled children made more office visits for acute care than did MK-enrolled children (4.1 CCHP vs 3.1 MK vs 3.4 PI), but a higher proportion of these visits took place at the medical home rather than the emergency department for the CCHP group (.04) as compared with the MK (.07) or PI (.06) groups. Asthmatic children in the CCHP group made more preventive office visits for maintenance therapy and more frequently used the primary care site rather than the emergency department for acute exacerbations than did children with PI (mean ratio of emergency department visits to total acute visits.04 CCHP vs.06 MK vs.19 PI). CONCLUSIONS: Despite capitated reimbursement for primary care services, CCHP provided children from low-income families with preventive, acute, and chronic care services of comparable quantity and quality to those received by children with MK or PI. The program was associated with a shift of immunization location to the primary care site and increased health maintenance care for new enrollees. CCHP-enrolled children used their medical home for the majority of acute health needs and were not high utilizers of emergency department or hospital services.

Acute Disease↗
PubMed2000

Reducing after-hours referrals by an after-hours call center with second-level physician triage.

OBJECTIVES: One-third of practices signing-out to The Children's Hospital Call Center in Denver, Colorado, choose to do second-level physician (SLP) triage for calls judged by the Center to require after-hours referral (AHR). We examined: 1) the effect of SLP triage on the rate of AHRs and 2) reasons for physicians' decisions. DESIGN: From January 1998 to August 1998 all calls from patients using a 5-member suburban pediatric practice judged by the Call Center to require AHR were referred to the practice's on-call physician who did SLP triage and completed a questionnaire. RESULTS: There were 955 eligible calls, 22% (N = 216) of which were initially given an urgent disposition by Call Center nurses. Physician questionnaires were completed for 97% (N = 209). Of patients initially triaged for AHR, 49% (N = 103) were subsequently given an AHR, 17% (N = 35) a next day office referral, and 34% (N = 71) home care and advice. Reasons for not urgently referring included the following: 1) medical problem didn't require urgent evaluation (95%, N = 99); 2) change in the patient's condition; (40% N = 43); 3) prior knowledge of family's ability to evaluate and care for the patient (40%, N = 43); and 4) knowledge of the patient's medical history (18%, N = 19). After SLP triage the overall urgent referral rate was 11%. CONCLUSIONS: Signing out to a Call Center decreased physicians' after-hours calls by 77% and SLP triage halved the number of urgent after-hours referrals.

Emergencies↗
PubMed1999

Introduction of a recorded health information line into a pediatric practice.

OBJECTIVE: To examine the utilization, satisfaction, and parental health-seeking behavior associated with the introduction of the Parent Advice Line (PAL), a collection of 278 recorded health-related messages accessible by telephone, into a private practice. DESIGN: Booklets listing PAL topics were mailed to eligible families, and utilization data were collected for all incoming PAL calls from June to August 1996. Satisfaction and effect on health-seeking behavior were assessed using a recorded questionnaire appended to each call (n = 561) and a randomized telephone questionnaire (n = 821). SETTING: A suburban, 7-pediatrician practice in Colorado. PATIENTS: Families with children younger than 12 years seen in the practice within 2 years (N = 8365). RESULTS: Of families who reported receiving the mailed PAL booklet, 32% used PAL. Sixty percent of PAL calls were placed during office hours, 21% from 5 PM to 9 PM, and 8% after midnight; call volume was higher on weekdays than on weekend days (25 calls per day vs 10 calls per day, respectively; P<.05 by chi2 test). The 5 most commonly requested topic categories were toilet training, sexual development, discipline problems, sleep problems, and teenage behavior. Preventive care topics predominated in infants, behavioral topics in preschool children, and acute illness topics in school-aged children. Of users, 88% were satisfied or very satisfied and 98% said that they would use PAL again. Respondents to the 2 questionnaires reported that use of PAL made a call or visit to their child's physician unnecessary 58% to 69% and 61% to 70% of the time, respectively. CONCLUSIONS: The PAL was used primarily to access information about behavioral and developmental issues during office hours. Its use was associated with high rates of satisfaction and, by parental report, decreased calls or visits to a physician.

Adult↗
PubMed1999

Exclusion of a major role for the PTEN tumour-suppressor gene in breast carcinomas.

PTEN is a novel tumour-suppressor gene located on chromosomal band 10q23.3. This region displays frequent loss of heterozygosity (LOH) in a variety of human neoplasms including breast carcinomas. The detection of PTEN mutations in Cowden disease and in breast carcinoma cell lines suggests that PTEN may be involved in mammary carcinogenesis. We here report a mutational analysis of tumour specimens from 103 primary breast carcinomas and constitutive DNA from 25 breast cancer families. The entire coding region of PTEN was screened by single-strand conformation polymorphism (SSCP) analysis and direct sequencing using intron-based primers. No germline mutations could be identified in the breast cancer families and only one sporadic carcinoma carried a PTEN mutation at one allele. In addition, all sporadic tumours were analysed for homozygous deletions by differential polymerase chain reaction (PCR) and for allelic loss using the microsatellite markers D10S215, D10S564 and D10S573. No homozygous deletions were detected and only 10 out of 94 informative tumours showed allelic loss in the PTEN region. These results suggest that PTEN does not play a major role in breast cancer formation.

BRCA2 Protein↗