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31.
AMJ van Wegberg RAF Evers JGM Burgerhof E van Dam M.R. Heiner-Fokkema MCH Janssen MC de Vries FJ van Spronsen 《Molecular genetics and metabolism》2021,132(1):49-55
BackgroundIn patients with phenylketonuria, stability of blood phenylalanine and tyrosine concentrations might influence brain chemistry and therefore patient outcome. This study prospectively investigated the effects of tetrahydrobiopterin (BH4), as a chaperone of phenylalanine hydroxylase on diurnal and day-to-day variations of blood phenylalanine and tyrosine concentrations.MethodsBlood phenylalanine and tyrosine were measured in dried blood spots (DBS) four times daily for 2 days (fasting, before lunch, before dinner, evening) and once daily (fasting) for 6 days in a randomized cross-over design with a period with BH4 and a period without BH4. The sequence was randomized. Eleven proven BH4 responsive PKU patients participated, 5 of them used protein substitutes during BH4 treatment. Natural protein intake and protein substitute dosing was adjusted during the period without BH4 in order to keep DBS phenylalanine levels within target range. Patients filled out a 3-day food diary during both study periods. Variations of DBS phenylalanine and Tyr were expressed in standard deviations (SD) and coefficient of variation (CV).ResultsBH4 treatment did not significantly influence day-to-day phenylalanine and tyrosine variations nor diurnal phenylalanine variations, but decreased diurnal tyrosine variations (median SD 17.6 μmol/l, median CV 21.3%, p = 0.01) compared to diet only (median SD 34.2 μmol/l, median CV 43.2%). Consequently, during BH4 treatment diurnal phenylalanine/tyrosine ratio variation was smaller, while fasting tyrosine levels tended to be higher.ConclusionBH4 did not impact phenylalanine variation but decreased diurnal tyrosine and phenylalanine/tyrosine ratio variations, possibly explained by less use of protein substitute and increased tyrosine synthesis. 相似文献
32.
Pauwels P Dal Cin P Roumen R van den Berghe H Sciot R 《Virchows Archiv : an international journal of pathology》1999,434(2):167-171
A case of an entirely intramuscular mixed tumour occurred in an 82-year-old man, who presented with a large mass in the region
of the right triceps muscle. A lobulated tumour was seen, with plump, round epithelioid cells embedded in a chondromyxoid
stroma. Immunohistochemical examination showed strong S100 protein and pancytokeratin positivity in most of the tumour cells.
Cytogenetic analysis revealed complex clonal chromosomal changes: 47, XY, +i (2) (q10), –15, der (17)t(15;17) (q11; p12),
+r. Differential diagnosis against extraskeletal myxoid chondrosarcoma (EMC) may be problematic, particularly in an incisional
biopsy. Chromosomal analysis can be very helpful in solving this problem, since EMC shows a specific reciprocal chromosome
translocation characterised as t (9;22) (q22–31) (q11–12).
Received: 8 July 1998 / Accepted: 22 September 1998 相似文献
33.
IA Maartens T Wassenberg FJ Halbertsma HAM Marres P Andriessen 《Acta paediatrica (Oslo, Norway : 1992)》2009,98(11):1852-1854
A case report is presented of a rapidly growing congenital nasopharyngeal teratoma (epignathus) in a preterm infant, leading to severe upper airway obstruction. Prenatal diagnosis by ultrasonography did not reveal the condition because the tumour masses were initially small and there was no polyhydramnios. Epignathus is a rare cause of upper airway obstruction of the newborn that can grow rapidly in the neonatal period and should be treated surgically.
Conclusion: Epignathus is a rare cause of upper airway obstruction of the newborn that can grow rapidly in the neonatal period. 相似文献
Conclusion: Epignathus is a rare cause of upper airway obstruction of the newborn that can grow rapidly in the neonatal period. 相似文献
34.
BD Heckman KA Holroyd G Tietjen FJ O'Donnell L Himawan C Utley R Watakakosol & M Stillman 《Cephalalgia : an international journal of headache》2009,29(6):650-661
This study sought to determine if Whites and African-Americans respond similarly to headache treatment administered in 'real-world' headache specialty treatment clinics. Using a naturalistic, longitudinal design, 284 patients receiving treatment for headache disorders completed 30-day daily diaries that assessed headache frequency and severity at pretreatment and 6-month follow-up and also provided data on their headache disability and quality of life at pretreatment and 1-, 2- and 6-month follow-up. Controlling for socioeconomic status and psychiatric comorbidity, hierarchical linear models found that African-Americans and Whites reported significant reductions in headache frequency and disability and improvements in life quality over the 6-month treatment period. African-Americans, unlike Whites, also reported significant decreases in headache severity. Nevertheless, Africans-Americans had significantly more frequent and disabling headaches and lower quality of life after treatment relative to Whites. Although Whites and African Americans responded favourably to headache treatments, more efficacious treatments are needed given the elevated level of headache frequency that remained in both racial groups following treatment. 相似文献
35.
Herjan van der Steeg Jesse P. van Akkeren Saskia Houterman Rudi M. H. Roumen 《Intensive care medicine》2009,35(5):914-918
Objective To evaluate the efficacy of the urine column (UC) measurement compared to the intra-vesicular pressure (IVP) measurement as
an estimation of intra-abdominal pressure (IAP) in patients with IAP up to 30 mmHg.
Methods Fifteen patients undergoing a laparoscopic cholecystectomy were studied. All patients were catheterized. IVP measurements
were performed using a pressure transducer connected to the culture aspiration port. UC measurements were done by holding
up the tubing against a measuring rod. The symphysis pubis was used as the zero-reference. IAP was raised from 0 to 30 mmHg
using increments of 5 mmHg, during which first the IVP and then UC measurement series were recorded end-expiratory. Fifty
and 100 ml of saline were used as a priming volume.
Results The IVP and UC measurements showed a significant correlation with IAP. Comparing IVP and UC showed a correlation of 0.91 (p < 0.001) for 50 ml and 0.87 (p < 0.001) for 100 ml of saline as a priming volume. Using 50 ml of saline, UC was 0.68 mmHg higher than IVP (95% CI −7.21
to +5.85 mmHg). For 100 ml of saline, UC was 1.23 mmHg lower than IVP (95% CI −7.41 to +9.87 mmHg).
Conclusion UC measurement shows significant correlation to IVP measurement as an estimation of the IAP. Further study needs to be done
to conclude whether UC measurement is a reliable clinical alternative to IVP measurement. 相似文献
36.
FJ Weir A Smith P Littleton N Carter PA Hamilton 《Acta paediatrica (Oslo, Norway : 1992)》1992,81(9):672-675
The aim of this study was to measure plasma atrial natriuretic peptide in preterm infants with a patent ductus arteriosus before and after closure with indomethacin. Atrial natriuretic peptide was measured in 28 preterm infants with clinical and echocardiographic evidence of a patent ductus arteriosus and in eight preterm infants who did not develop clinical evidence of a patent ductus arteriosus. Plasma concentration of atrial natriuretic peptide was measured by radioimmunoassay. In 18 infants the patent ductus arteriosus closed after one course of indomethacin; atrial natriuretic peptide levels decreased from median 1240 pg/ml (range 201-5483 pg/ml) to 266 pg/ml (range 62-1108 pg/ml). In four infants the patent ductus arteriosus closed after two courses of indomethacin and two infants had surgical ligation after indomethacin treatment failed. The patent ductus arteriosus closed spontaneously in four infants (atrial natriuretic peptide median level 152 pg/ml, range 61-495 pg/ml). In the eight infants without patent ductus arteriosus, atrial natriuretic peptide level was median 224 pg/ml (range 38-876 pg/ml). Measurement of plasma atrial natriuretic peptide concentration has a role in predicting when indomethacin treatment is indicated. 相似文献
37.
38.
Lleó Pérez A Hernández Pérez D Hernández Martínez FJ Navarro Palop C Marcos Jorge A Pallas Ventayol C 《Archivos de la Sociedad Espa?ola de Oftalmología》2000,75(8):555-558
PURPOSE/METHODS: Serpiginous choroiditis is a rare, chronic, progressive, and recurrent bilateral disorder primarily involving the choriocapillaris and the retinal pigment epithelium. Progression typically occurs as pseudopodia extensions away from the optic discs and usually infringes upon the macula and foveal region. RESULTS/CONCLUSIONS: We studied three cases of geographic choroidopathy, showing the ophthalmoscopic picture and the fluorescein angiographic of the fundus oculi, characterised by typical disease lesions. Finally, some considerations in differential diagnosis between pigment epithelium inflammatory diseases will be reported. 相似文献
39.
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