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61.
Dawn S. Milliner 《Acta paediatrica (Oslo, Norway : 1992)》2006,95(S452):27-30
Genetic disorders of mineral metabolism cause urolithiasis, renal disease, and osteodystrophy. Most are rare, such that the full spectrum of clinical expression is difficult to appreciate. Diagnosis is further complicated by overlap of clinical features. Dent's disease and primary hyperoxaluria, inherited causes of calcium urolithiasis, are both associated with nephrocalcinosis and urolithiasis in early childhood and renal failure that can occur at any age but is seen more often in adulthood. Bone disease is an inconsistent feature of each. Dent's disease is caused by mutations of the CLCN-5 gene with impaired kidney-specific CLC-5 chloride channel expression in the proximal tubule, thick ascending limb of Henle, and the collecting ducts. Resulting hypercalciuria and proximal tubule dysfunction, including phosphate wasting, are primarily responsible for the clinical manifestations. Low-molecular-weight proteinuria is characteristic. Definitive diagnosis is made by DNA mutation analysis. Primary hyperoxaluria, type I, is due to mutations of the AGXT gene leading to deficient hepatic alanine–glyoxylate aminotransferase activity. Marked overproduction of oxalate by hepatic cells results in the hyperoxaluria responsible for clinical features. Definitive diagnosis is by liver biopsy with measurement of enzyme activity, with DNA mutation analysis used increasingly as mutations and their frequency are defined.
These disorders of calcium urolithiasis illustrate the value of molecular medicine for diagnosis and the promise it provides for innovative and more effective future treatments. 相似文献
Conclusion
These disorders of calcium urolithiasis illustrate the value of molecular medicine for diagnosis and the promise it provides for innovative and more effective future treatments. 相似文献
62.
Orapan Poachanukoon Nualanong Visitsunthorn Watcharee Leurmarnkul Pakit Vichyanond 《Pediatric allergy and immunology》2006,17(3):207-212
Quality of life (QoL) is an important consideration among asthma sufferers. The Pediatric Asthma Quality of Life Questionnaire (PAQLQ) is one of the most widely used instruments for measuring health-related QoL in children with asthma. The standardized version of PAQLQ contains 23 questions in three domains, i.e., activity limitation, symptoms and emotional function. The objective of this study was to validate the Thai-translated version of the PAQLQ. The study design consisted of a five-week single cohort study. Patients recorded symptoms, and peak expiratory flow rate (PEFR) each morning and evening during the first and fifth week of the study in asthma diary. At each clinic visit, a trained-interviewer administered the PAQLQ and performed spirometric measurements. Fifty-one children, ages between 7 and 17 yr participated in the study. Scores from the asthma diary were used to classify patients into stable vs. unstable groups. The construct validity of the questionnaire was confirmed in both cross-sectional and longitudinal studies by demonstrating correlations between various PAQLQ domains with clinical asthma parameters (asthma diary, beta-agonist use and PEFR). There was high internal consistency for scores of the three domains (Cronbach's alpha-coefficient = 0.83-0.95). For those with stable asthma, the reliability of PAQLQ was good for the rating scale (intra-class correlation coefficient--ICC = 0.84) and for total score (alpha = 0.97) indicating high reproducibility of the PAQLQ. The significant difference of changes QoL scores between stable and unstable groups was observed in all domains. We conclude that the Thai version of PAQLQ is valid and reliable for implementing in Thai children with asthma. 相似文献
63.
We have carried out a prospective randomised, single blind clinical trial to investigate the effect of continuous passive motion on range of knee flexion, lack of extension, pain levels and analgesic use after total knee replacement surgery. 85 subjects were randomly allocated to control or study group. All subjects followed the existing rehabilitation protocol, which permits immediate active range of motion exercises and mobilisation with the study group using continuous passive motion for 1 h, twice a day. Outcome measures employed were range of motion, pain assessed on a visual analogue scale and analgesic use according to the WHO ladder. Blinded evaluation was carried out preoperatively, at time of discharge from hospital, 6 weeks, 6 and 12 months postoperation. No significant difference was observed between groups at all time intervals for each outcome variable using Wilcoxon Rank sum tests. The results substantiate previous findings that short duration continuous passive motion following total knee arthroplasty does not influence outcome of range of motion or reported pain. 相似文献
64.
65.
Eijiro Morita Torao Tanaka Tetsuya Nakamura Fumitaka Terabe Ichiro Hirata Kenichi Katsu Masakazu Takazoe Akira Terano 《Digestive endoscopy》2006,18(4):263-268
Background and Aims: Video capsule endoscopy (VCE) has become increasingly important as a simple method for observing the entire small intestine. The indications for VCE are obscure gastrointestinal bleeding and investigation of Crohn’s disease (CD). However, the correlation between endoscopic findings obtained by VCE and clinical findings in known cases of CD is not clear, and we therefore investigated this in the present study. Patients and methods: In 30 patients with known CD (Crohn’s disease activity index [CDAI] 0–420; median = 158.3), double contrast enteroclysis (ENT) was performed 1–3 weeks prior to VCE. The relationship between the VCE findings and hematological analysis/CDAI was examined. Results: In 17 of 30 patients, the entire small intestine could be investigated by VCE, whereas in the remaining 13 patients the terminal ileum could not be investigated. The following exhibited positive correlations: total lesions and CDAI (correlation coefficient values: rs = 0.661, adjusted P < 0.0061), ulcers and C‐reactive protein (CRP) (rs = 0.607, adjusted P < 0.0061), total lesions and CRP (rs = 0.604, adjusted P < 0.0061). Conclusions: Analysis with VCE suggests that CDAI and CRP indicate the activity of intestinal lesions in patients with known CD, and that CRP, in particular, is associated with the activity of ulcerative lesions of the intestine. This may contribute to revised guidelines for VCE in the future. 相似文献
66.
Andreas Pascher Sven Kohler Jan M Langrehr Peter Neuhaus Department of Visceral Transplantation Surgery Charite - Universittsmedizin Berlin Campus Virchow Klinikum Augustenburgerplatz Berlin Germany Jochen Klupp Exploratory Clinical Development Novartis Pharma AG WSJ-.. CH- Basel Switzerland 《World journal of gastroenterology : WJG》2006,(27)
To report an extended multivisceral transplantation (MVTx) including right kidney and ascending colon in a patient with complicated Crohn's disease (CD). A 36-year old female suffering from short bowel syndrome and frozen abdomen due to fistulizing CD after multiple abdominal operations underwent MVTx of eight organs including stomach, pancreatoduodenal complex, liver, intestine, ascending colon, right kidney, right adrenal gland, and greater omentum in November 2003. Immunosuppression consisted of alemtuzumab, tacrolimus and steroids. The patient was off parenteral nutrition by postoperative wk 3. She experienced one episode of pneumonia. The patient recovered completely and discharged 2.5 mo and was doing well 30 mo after MVTx. This is one of the very rare cases in which a complete mulitivisceral graft of eight abdominal organs was transplanted orthotopically. 相似文献
67.
Here we report how the different types of regional muscle involvement, i.e. bulbar, ocular or generalized, in patients with myasthenia gravis (MG) influence the mental aspects of quality of life. Clinical examination according to Osserman was performed in 48 MG patients (45 women, three men; mean age 54, SD 12 years). Each patient was at the time for clinical evaluation asked to fill out the disease-specific Myasthenia Gravis Questionnaire (MGQ) and the Short-Form 36-item questionnaire for health survey (SF-36) as patient-oriented tools. We related the regional domains (generalized domain, bulbar domain and ocular domain) of the MGQ and the clinical findings, respectively, with mental quality of life as assessed by SF-36. Bulbar and generalized involvement results in impairment of mental aspects of quality of life, whereas ocular involvement does not. 相似文献
68.
Summary Of the 105 great cormorants (Phalacrocorax carbo sinensins) from northern Poland (the Vistula Lagoon and Masurian Lake District), examined in 2000–2001, 67 proved hosts of the nematode
Syncuaria squamata (Linstow, 1883). The prevalence, mean intensity, and intensity range amounted to 63.8 %, 36.2 specimens, and 1–120 specimens,
respectively. The infection was heavier in the immature birds (84.6 %, 40.9 inds, and 1–120 inds) than in the adults (3.7
%, 1 ind.). The nematodes were dominated by gravid females (n=1846), followed by males (n=157), immature females (n=79), and
L4 larvae (n=2). Measurements of the parasite are provided. S. squamata is a new species for the parasite fauna of Poland. 相似文献
69.
Philip A. Rozario Nancy L. Morrow-Howell Enola K. Proctor 《Quality of life research》2006,15(4):755-759
Using the SF-12 to measure physical and mental functioning, the authors examine the intra-individual changes in health-related
quality of life (HRQOL) 6 months post-discharge for depressed older adults. In addition, they examine three sets of predictors
that might influence these changes. The sample of depressed older adults was recruited from an inpatient geropsychiatry unit.
Although their physical and mental health scores on the SF-12 were lower than comparable norms, the sample showed an average
increase in their mental functioning but a decrease in the physical functioning over the 6 months. Negative life-events were
significant predictors of people who reported no change in their mental health functioning and decreases in their physical
health functioning. Interestingly, those who experienced positive life events were more likely to report declines and younger
participants were more likely to report no change in their physical functioning. The findings indicate that the effects of
depression on HRQOL can have enduring effects on a sample of previously hospitalized older adults. The significance of life
event changes might signify the importance of taking into account non-traditional areas of medical interventions. Further,
the findings indicate the usefulness of the SF-12 quantifying HRQOL outcomes. 相似文献
70.
高压氧治疗急性一氧化碳中毒174例护理效果观察 总被引:5,自引:0,他引:5
急性CO中毒是我国北方地区冬季的常见病,多发病。若治疗不及时或不彻底又有发生CO中毒迟发性脑病的危险。自从高压氧医学产生和发展以来,目前已成为CO中毒首选的主要治疗手段,取得了很好的治疗效果。本文对近3年来用高压氧(HBO)配合临床药物治疗CO中毒及迟发性脑病174例的治疗护理效果进行了观察,认为对急性CO中毒患者的治疗护理应及早发现、及早就医、及早HBO治疗并坚持足够的疗程,可以提高CO中毒的治愈率,降低死亡率,减少或减轻迟发性脑病的发生,同时认为整个HBO治疗过程中做好每个环节的护理工作是CO中毒患者救治成功的关键。1… 相似文献