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101.
Niklas Darin Mårten Kyllerman Anna-Lena Hård Claes Nordborg Jan-Eric Månsson 《European journal of paediatric neurology》2009,13(6):553-555
Galactosialidosis (MIM 256540) is an autosomal recessive lysosomal storage disease caused by a defect of the protective protein/cathepsin A. Increased amounts of urinary sialic acid-rich oligosaccharides are considered to be an essential diagnostic marker of the disease. We here report a patient with atypical clinical features who consistently has excreted normal amounts of sialyloligosaccharides in the urine. The boy started to have attacks of neuropathic pain associated with hyperesthesia around 1½ years of age. From 4 years of age when his vision was first tested, the patient developed progressive visual loss and at the age of 10 years, macular cherry-red spots were found. At this age, he also had a mild learning disability and clinical examination showed mild facial coarsening, increased lumbar lordosis and pyramidal signs in the legs. In conclusion, the clinical and laboratory features of this patient show that galactosialidosis may be considered in patients even in the absence of oligosacchariduria and that galactosialidosis should be regarded as a differential diagnosis in patients with neuropathic pain. 相似文献
102.
G. Van Pottelbergh L. Hoste J. Degryse H. Pottel K. Claes N. Demoulin M. Jadoul B. Bammens P. Wallemacq 《Clinical biochemistry》2013,46(1-2):31-36
ObjectivesMeasuring the exact glomerular filtration rate (GFR) is difficult. Iohexol can be used instead of inulin or labeled EDTA or DTPA. In recent years, different studies have validated GFR-estimating equations in adults. Validation of these estimations in adolescents and elderly is lacking. With this study, we aim to develop a simplified (only 1–3 blood collections) iohexol protocol to measure the true GFR for patients of all ages and try to develop GFR-estimating equations for adolescents and the elderly.Design and settingParticipants of different ages will be recruited: 50 adolescent (14–18 years) and 30 adults (20–65 years), 60 elderly (65–80 years) and 60 very elderly (80 + years old) stratified based on their GFR. Biometric data, serum creatinine and cystatin C will be measured. After injecting 5 mL iohexol, 9 blood samples will be taken between 20 and 360 min. First, the GFR will be calculated by using the double exponential decay method and different GFRs based on 1–3 blood samples, which will be compared with the GFR of the abovementioned 9 samples. Second, the GFR will be calculated by using new and existing equations and compared to the true GFR.DiscussionThe availability of a reliable GFR measurement is important in situations such as screening patients for kidney donation or when taking potentially nephrotoxic treatments. This study will allow us to develop a simplified protocol for measuring the true GFR in all ages and will allow us to validate existing equations and develop new eGFR equations for adolescents and the elderly. 相似文献
103.
104.
We introduce a novel method of lateral callus distraction for bone formation, which avoids the conventional splitting and weakening of bones. At the medial aspect of the sheep tibia the periosteum was resected and small holes were drilled into the cortex to connect the bone surface with the marrow. A distraction device with a hydroxyapatite-coated titanium plate was fixed over the drilled area. After 10 days latency the plate was distracted perpendicular to the bone's long axis twice a day by 0.27 mm for 10 days. The newly formed tissue was then allowed 50 days of maturation. In a control group the plate was fixed 5.4 mm distant from the bone surface. After 70 days all sheep were sacrificed and investigated histo-morphologically and with pQCT.Significantly more bone had developed between the lateral bone surface and the plate in the distraction group compared to the control group. There was exclusively intra-membranous bone formation with trabeculae oriented in the direction of the applied distraction. The main calcification occurred weeks after the last distraction. In conventional callus distraction the tissue strain caused by distraction is superimposed by the tissue deformation due to the deformation of the fixation device. In contrast, in the newly introduced lateral callus distraction method pure uniaxial strain occurs. From a mechano-biological point of view these results suggest that pure uniaxial strain induces exclusively intra-membranous bone formation. Furthermore, it shows that the anabolic effect of tissue strain is present even 50 days after the last stimulation by distraction. 相似文献
105.
This study examines the affect regulation function of different types of nonsuicidal self-injury (NSSI) in 177 female eating-disordered inpatients. Almost 45% of the eating-disordered patients displayed at least 1 type of NSSI. Cutting and scratching were the most common forms of NSSI followed by bruising and burning oneself. For all types of NSSI except bruising, the affect regulation function was most strongly endorsed. Affect states reported to precede and follow NSSI were also examined to determine the particular affect states regulated by NSSI. In general, positively valenced low-arousal affect states increased and negatively valenced high-arousal affect states decreased from before to after NSSI. Finally, affective changes associated with NSSI were related to different NSSI characteristics, indicating that the increase in positive affect after NSSI is significantly related to the frequency of NSSI and the numbers of functions reported for NSSI. Theoretical and treatment implications are discussed. 相似文献
106.
Background
During spring-assisted cranioplasty, the spring transmits forces through adjacent cranium. We have previously demonstrated that the ectocranial–endocranial thickness of cranial sutures increases significantly over time in the presence of continuous spring forces. We wished to investigate if cranial bone showed similar adaptational responses. 相似文献107.
Qinghua Wu Ragnhild A Lothe Terje Ahlquist Ilvars Silins Claes G Tropé Francesca Micci Jahn M Nesland Zhenhe Suo Guro E Lind 《Molecular cancer》2007,6(1):45
Background
The epigenetics of ovarian carcinogenesis remains poorly described. We have in the present study investigated the promoter methylation status of 13 genes in primary ovarian carcinomas (n = 52) and their in vitro models (n = 4; ES-2, OV-90, OVCAR-3, and SKOV-3) by methylation-specific polymerase chain reaction (MSP). Direct bisulphite sequencing analysis was used to confirm the methylation status of individual genes. The MSP results were compared with clinico- pathological features. 相似文献108.
J Van Haesendonck P H Van de Heyning J Claes G Goovaerts P Van Reempst A De Schepper J F Marquet 《International journal of pediatric otorhinolaryngology》1990,19(2):175-180
A case of neonatal respiratory distress due to an oropharyngeal hairy polyp is reported with its MRI assessment. The place of hairy polyps in the differential diagnosis of upper respiratory tract obstruction is discussed. Early and rapid diagnosis and treatment may be lifesaving for the newborn. 相似文献
109.
Karlsson MK Hasserius R Olerud C Ohlin A 《Archives of orthopaedic and trauma surgery》2002,122(9-10):522-525
BACKGROUND: Six men and seven women, aged 62 years, bedridden due to back pain from a septic spondylitis in the thoracolumbar region and not responding to conservative treatment, were operated on with transpedicular stabilisation of the affected segments to enhance mobilisation. All patients experienced immediately reduced back pain, allowing them to leave their bed and start mobilisation during the first postoperative day. At follow-up after a mean of 29 months (range 13-60 months) only one was using analgesics. RESULTS: Nine of the 11 patients with pathological neurology at surgery had improved, none had deteriorated, and all were ambulatory without bladder or bowel disturbances. Seven had achieved a solid interbody fusion, with a continued radiographic decrease in the spondylitic change in the rest, indicating that a progressive interbody fusion was in progress. Three individuals had increased kyphosis, a mean of 11 deg compared with the postoperative radiographs. 相似文献
110.
Benefit of anti-TNFalpha treatment for nephrotic syndrome in a patient with juvenile inflammatory bowel disease associated spondyloarthropathy complicated with amyloidosis and glomerulonephritis 下载免费PDF全文
Verschueren P Lensen F Lerut E Claes K De Vos R Van Damme B Westhovens R 《Annals of the rheumatic diseases》2003,62(4):368-369