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51.
Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany 总被引:6,自引:0,他引:6
Hoffmann GF von Kries R Klose D Lindner M Schulze A Muntau AC Röschinger W Liebl B Mayatepek E Roscher AA 《European journal of pediatrics》2004,163(2):76-80
The lack of epidemiological data on the frequency and/or burden of organic acidurias (OA) and mitochondrial fatty acid transport and oxidation disorders (mtFATOD) is one reason for hesitation to expand newborn screening (NBS) by tandem mass spectrometry (MS-MS). From 1999 to 2000, the frequency of ten potentially treatable OA and mtFATOD was assessed by active nation-wide surveillance on cases presenting with clinical symptoms using the German Paediatric Surveillance Unit (ESPED) system. Case ascertainment was complemented by a second independent source: 3-monthly inquiries in the metabolic laboratories performing secondary selected screening for OA and mtFATOD. Frequency estimates for clinically symptomatic cases older than 7 days in a birth cohort of 844,575 conventionally screened children was compared to the frequency found in a cohort of 382,247 screened by MS-MS in Bavaria and Baden-Württemberg. The overall frequency of the ten conditions considered was 1:8,000 (95% CI 1:11,000–1:6,000) by MS-MS as compared to 1:23,000 (95% CI 1:36,000–1:17,000) in symptomatic cases presenting mainly with metabolic crisis. The contributions of medium-chain acyl-CoA dehydrogenase deficiency (MCADD), other mtFATOD and OA were 29, 4 and 13 among the 46 cases identified by MS-MS, and 19, 1 and 13 among the 33 clinically symptomatic cases, respectively. Acute metabolic crisis, with a lethal outcome in four patients, was reported for 22/33 clinically symptomatic cases. No clinically symptomatic cases were reported from cohorts with screened by MS-MS. Conclusion: ten potentially treatable organic acidurias and mitochondrial fatty acid transport and oxidations disorders were more common than phenylketonuria with organic acidurias accounting for 28% of the cases detected by newborn screening and 39% of the cases identified on high risk screening. These conditions were related to considerable morbidity and mortality. Considerations for their inclusion in expanded newborn screening programmes might be warranted.Abbreviations
ESPED
Erhebungseinheit für seltene pädiatrische Erkrankungen in Deutschland (German Paediatric Surveillance Unit)
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MCADD
medium-chain acyl-CoA dehydrogenase deficiency
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MS-MS
tandem mass spectrometry
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mtFATOD
mitochondrial fatty acid transport and oxidation disorders
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NBS
newborn screening
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OA
organic acidurias 相似文献
52.
Leptospira interrogans is an important mammalian pathogen. Transmission from an environmental source requires adaptations to a range of new environmental conditions in the organs and tissues of the infected host. Since many pathogenic bacteria utilize temperature to discern their environment and regulate the synthesis of appropriate proteins, we investigated the effects of temperature on protein synthesis in L. interrogans. Bacteria were grown for several days after culture temperatures were shifted from 30 to 37 degrees C. Triton X-114 cellular fractionation identified several proteins of the cytoplasm, periplasm, and outer membrane for which synthesis was dependent on the culture temperature. Synthesis of a cytoplasmic protein of 20 kDa was switched off at 37 degrees C, whereas synthesis of a 66-kDa periplasmic protein was increased at the higher temperature. Increased synthesis of a 25-kDa outer membrane protein was observed when the organisms were shifted from 30 to 37 degrees C. A 36-kDa protein synthesized at 30 but not at 37 degrees C was identified as LipL36, an outer membrane lipoprotein. In contrast, expression of another lipoprotein, LipL41, was the same at either temperature. Immunoblotting with convalescent equine sera revealed that some proteins exhibiting thermoregulation of synthesis elicited antibody responses during infection. Our results show that sera from horses which aborted as a result of naturally acquired infection with L. interrogans serovar pomona type kennewicki recognize periplasmic and outer membrane proteins which are differentially synthesized in response to temperature and which therefore may be important in the host-pathogen interaction during infection. 相似文献
53.
Joshi HB Stainthorpe A Keeley FX MacDonagh R Timoney AG 《Journal of endourology / Endourological Society》2001,15(2):151-154
BACKGROUND: Ureteral stents cause various side effects. We have evaluated health-related quality of life (HRQoL) in patients with stents using validated questionnaires and developed a new stent symptom (intervention)-specific questionnaire (SSQ). PATIENTS AND METHODS: Along with structured literature review and in-depth interviews, prospective sub-studies were carried out using generic (SF-36 [N = 30], EuroQol [N = 40], and Functional Status Questionnaire FSQ [N = 20]) and symptom-specific (IPSS [N = 30] and International Continence Society ICS [N = 30]) questionnaires both with a stent in situ and after removal. The results of these studies formed the foundation for a new SSQ that was pilot tested (N = 10) and field tested (N = 20) in order to develop a final draft of the questionnaire that is formally validated. RESULTS: The qualitative research identified a range of problems. Urinary symptoms, pain, work performance, and general health were the most important. Most patients (80%) experienced bothersome urinary symptoms and stent-related pain. Storage symptoms and incontinence were significant urinary symptoms affecting quality of life. As many as 40% of patients experienced sexual dysfunction. The stent had a significant impact on patients' general health. None of the existing measures evaluated the complete impact. The SSQ includes five sections covering urinary symptoms, pain, sexual matters, general health, and work performance. The preliminary results showed it to be valid, reliable (alpha > 0.7) and responsive to the change in scores (p < 0.05) after stent removal. CONCLUSIONS: Indwelling ureteral stents are associated with significant morbidity, resulting in a reduced HRQoL in 80% of patients. The SSQ is a reliable intervention-specific instrument that would be useful as an outcome measure to evaluate the impact of stents. 相似文献
54.
Joshi HB Newns N Stainthorpe A MacDonagh RP Keeley FX Timoney AG 《BJU international》2001,88(4):329-334
OBJECTIVE: To report a scientific approach incorporating patient preferences towards the development of a patient-information booklet about ureteric stents. PATIENTS AND METHODS: Phase 1 of the study included 35 adult patients with ureteric stents who were surveyed using semi-structured interviews (four patients) and a questionnaire (31 patients) to assess various issues relating to information given to patients about ureteric stents. In addition, published papers were assessed and clinicians' opinions sought. The results formed the basis for a comprehensive patient-information booklet about ureteric stents that incorporated patients' views and preferences. In phase 2, the booklet was tested and formally validated by inviting 30 patients, a panel of 20 urologists and general practitioners, and five stent manufacturers to assess the booklet for adequacy, coverage and readability of the content. RESULTS: Of the 35 patients, 30 (19 men and 11 women, mean age 49 years, range 20-78) participated in the initial survey; 80% of patients reported dissatisfaction about the information they received. Patients wanted more information about the use, adverse events and effects of stents on daily life; 85% preferred all relevant information about the stents to be in a written format with illustrative drawings. An eight-page booklet was thus developed. The validation study revealed that the booklet matched patients' experiences (approval score of 9/10, range 8-10) and was reported as satisfactory by clinicians and manufacturers. CONCLUSIONS: A validated information booklet on ureteric stents was developed, incorporating patients' expectations and views. This booklet is expected to be an effective tool for patient communication that would help patients cope better with indwelling stents and be useful in counselling patients. A similar approach could be adopted for the development of other patient-information packs. 相似文献
55.
56.
A history of pet contact and/or apparent clinical sensitivity was obtained in 65 (55%) of 118 unselected asthmatic children. These 65 children were skin tested and their sera examined for specific IgE using the radioallergosorbent test. Those children who had apparent clinical sensitivities had larger skin test reactions and were more likely to have positive specific IgE results than those without apparent sensitivities. Positive skin tests were very common (80%), but the larger the skin test reaction (weal diameter greater than 4 mm diameter) the more likely was there to be a positive history or a positive specific IgE result. Hence a large skin test reaction can provide a helpful pointer to animal allergy of clinical importance. Commercially available animal extracts have limitations for diagnostic tests. A questionnaire survey of 150 day schools emphasized the potential opportunities for contact with animal allergens at school. 相似文献
57.
58.
N Timoney M Saiveau J Pinsolle J Shepherd 《Journal of cranio-maxillo-facial surgery》1990,18(4):154-157
Consecutive patients with maxillofacial fractures who attended departments of maxillofacial surgery in Bristol and Bordeaux during 1985-1986 were surveyed prospectively to determine differences in demography and aetiology and patterns of injury. 1,652 patients were included: 1,146 in Bordeaux and 506 in Bristol. Significantly more patients with nasal complex fractures were treated in Bordeaux reflecting management of these injuries by oto-rhino-laryngologists in Bristol. Maxillary fractures were comparatively more frequent in Bordeaux, reflecting a higher incidence of road accidents. Significantly more assault victims were treated by maxillofacial surgeons in Bristol, though per capita alcohol consumption by age and sex matched individuals was greater in France than in the U.K. Incidence of fracture was 18/100,000 hospital catchment population/year in Bordeaux, compared to 32/100,000 population/year in Bristol; reflecting that in contrast to Bristol, specialists in private practice outside the regional centre treated patients with fractures in S. W. France. Differences in aetiology of injury could be explained by cultural factors. Formal twinning arrangements and EEC membership provide excellent opportunities for postgraduate education, training and collaborative clinical research. 相似文献
59.
Although vaccination is widely practiced against infection by Erysipelothrix rhusiopathiae in pigs and turkeys, the protective antigen(s) involved have not been fully characterized or purified to homogeneity. Antigens of E. rhusiopathiae strain T28, serotype 2b, and of FRANKFURT XI, serotype N, in culture supernatant and in extracts made with hot acid, 10 mM NaOH, ultrasound or EDTA were compared by SDS-PAGE and immunoblotting and in a mouse protection test. EDTA and 10 mM NaOH yielded highly protective extracts; culture supernatant was less protective and ultrasonic or hot acid extracts stimulated little or no protection in mice. Protective antisera from swine, horses and mice recognized prominent bands of molecular mass (m.m.) of 66-64 and 40-39 kDa in EDTA and 10 mM NaOH extracts. Mice immunized with preparations of the 66-64 kDa band purified by preparative electrophoresis were protected. Both antigens were trypsin sensitive, contained no detectable polysaccharide, and showed a marked tendency to aggregate in the absence of SDS. 相似文献
60.