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33.
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
34.
Robotic assisted rectopexy 总被引:5,自引:0,他引:5
Munz Y Moorthy K Kudchadkar R Hernandez JD Martin S Darzi A Rockall T 《American journal of surgery》2004,187(1):88-92
BACKGROUND: During the last 3 years, robotic surgery has had a considerable impact on minimally invasive surgery in a wide range of specialties. This study describes the surgical technique and preliminary results of our first 6 cases of robotic assisted suture rectopexy. METHODS: During a period of 13 months 6 patients with full thickness rectal prolapse were operated on with the da Vinci surgical system. All patients were considered suitable for a suture rectopexy. Setting-up time, procedure time, patient recovery, and hospital stay were recorded and compared with the current literature. RESULTS: All operations were completed successfully using the robotic system. There were no major complications and no deaths. Mean setting-up time was 28 minutes, mean operation time was 127 minutes, and mean hospital stay was 6 days. At 3 to 6 months of follow-up all patients are in good health, with no signs of recurrence and no reports of constipation. CONCLUSIONS: Robotic assisted suture rectopexy is feasible and safe and apparently meets accepted standards of laparoscopic surgery. 相似文献
35.
We examined the value of carcinoembryonic antigen (CEA) monitoring for detecting treatable recurrence of colorectal carcinoma.
CEA assays were undertaken in 193 patients over a 2-year period. The levels in 34 patients were raised in one or more assays
above the laboratory-defined upper limit of normal; 31 cases were reviewed retrospectively. In 10% of patients there were
Dukes' A lesions at the initial resection, in 39% Dukes' B, and in 52% Dukes' C1 or C2. Tumours were rectal in 61%. Median
follow-up was 3 years (range, 16 years–2 months). In 23 of 31 (74%) there were symptoms or signs of recurrent disease prior
to or simultaneously with an observed rise in CEA; in 8 the CEA rise preceded the onset of symptoms or the appearance of signs.
Of the 31 cases 26 underwent investigation for recurrent disease, but in only 6 of these was the investigation driven by the
observed rise in CEA rather than the onset of symptoms or presence of signs. Three of these six were false-positive results
(50%), one has been lost to follow-up, and two had confirmed recurrence. Neither of the two with recurrence had operable disease.
One of the two had no further treatment, and one underwent laparotomy at which multiple peritoneal seedlings were found. In
both of the two cases going to laparotomy, one of which was prompted by a high CEA, widely disseminated disease was found.
Over a 2-year period, serial CEA measurement thus yielded no patient benefit.
Accepted: 13 October 1998 相似文献
36.
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
37.
38.
39.
Background Bacterial overgrowth may cause cobalamin deficiency through competition for dietary cobalamin in the small intestine. The objective of this study was to prospectively determine the prevalence of small bowel bacterial overgrowth in patients with documented cobalamin deficiency in a tertiary referral centre.
Methods Patients identified with cobalamin deficiency underwent diagnostic investigations including: Endoscopy (with gastric antrum, gastric body and duodenal biopsies and duodenal aspirate),14 C-D-Xylose breath test, intrinsic factor antibody, anti-endomysial antibody and red cell folate level. 'Definite' small bowel bacterial overgrowth was defined as either a positive 14 C-D-Xylose breath test or > 100 000 CFU/mL of culture of duodenal aspirate. 'Suspected' small bowel bacterial overgrowth was defined as an elevated red cell folate in the absence of supplemental folate therapy.
Results Over a 2-year period, 62 patients with cobalamin deficiency were identified, of whom, 26 (42%) had 'definite' small bowel bacterial overgrowth, whilst a further nine (15%) had 'suspected' small bowel bacterial overgrowth. Nineteen (31%) had pernicious anaemia, and no cause for cobalamin deficiency could be found in eight (13%) patients. The diagnosis found in the remaining patients included coeliac disease (4), Crohn's Disease (1), gastric resection (2), vegan (2), homozygotes of the MTHFR gene (C677T) mutation (2), and one had enteropathy associated with common variable immunodeficiency (CVID). 'Definite' small bowel bacterial overgrowth was found to coexist with nine of the 19 cases of pernicious anaemia, two coeliac subjects, one CVID enteropathy and one patient with the MTHFR gene mutation.
Conclusion Small bowel bacterial overgrowth is commonly associated with cobalamin deficiency. 相似文献
Methods Patients identified with cobalamin deficiency underwent diagnostic investigations including: Endoscopy (with gastric antrum, gastric body and duodenal biopsies and duodenal aspirate),
Results Over a 2-year period, 62 patients with cobalamin deficiency were identified, of whom, 26 (42%) had 'definite' small bowel bacterial overgrowth, whilst a further nine (15%) had 'suspected' small bowel bacterial overgrowth. Nineteen (31%) had pernicious anaemia, and no cause for cobalamin deficiency could be found in eight (13%) patients. The diagnosis found in the remaining patients included coeliac disease (4), Crohn's Disease (1), gastric resection (2), vegan (2), homozygotes of the MTHFR gene (C677T) mutation (2), and one had enteropathy associated with common variable immunodeficiency (CVID). 'Definite' small bowel bacterial overgrowth was found to coexist with nine of the 19 cases of pernicious anaemia, two coeliac subjects, one CVID enteropathy and one patient with the MTHFR gene mutation.
Conclusion Small bowel bacterial overgrowth is commonly associated with cobalamin deficiency. 相似文献
40.
AG Dorsten 《MedR Medizinrecht》2005,23(2):102
Abstrakt Es besteht kein Auskunftsanspruch des Patienten, der die Geltendmachung von Schadensersatzansprüchen aufgrund ärztlicher Fehlbehandlung beabsichtigt, auf Bekanntgabe der Berufshaftpflichtversicherung sowie der Versicherungsvertragsnummer gegenüber dem Arzt. Der Patient muss sich vielmehr zur Geltendmachung seiner Schadensersatzansprüche an den behandelnden Arzt selbst wenden. (Leitsätze des Bearbeiters) 相似文献