Homozygosity or mixed heterozygosity for mutations in the adenine phosphoribosyltransferase gene cause enzyme deficiency directing adenine through an alternative metabolic pathway. This results in the production of 2,8-dihydroxyadenine, which is actively secreted into the urine. 2,8-dihydroxyadenine is insoluble at physiological urinary pH but as marked supersaturation is possible the manifestations differ: there may be minimal consequences, there may be infiltration of the tubulointerstitial tissue with acute or chronic damage or there may be stone formation in the urinary tract. Effective treatment can be offered and therefore the prognosis depends upon the renal function at diagnosis. Treatment consists of adequate fluid intake, a low-purine diet and administration of allopurinol. Urinary 2,8-dihydroxyadenine crystals are easily recognized under a microscope. The diagnosis of 2,8-dihydroxyadeninuria can be confirmed by estimation of adenine phosphoribosyltransferase activity in erythrocyte lysates. More than 300 cases of 2,8-dihydroxyadeninuria have been diagnosed worldwide, most of them in Japan, France and Iceland. One case has been reported in Finland but there have been no reports from the Scandinavian peninsula or from Denmark. The relevant mutations may be very rare in these countries but underdiagnosis is also possible.
The intraocular pressure reducing effect and side-effects of latanoprost, a phenyl-substituted prostaglandin analogue, were compared with those of timolol, in a group of 31 glaucomatous or ocular hypertensive patients, divided into three subgroups. The study was randomized and double masked. At the end of 6 month's treatment with latanoprost 0.005% once daily, either as a morning dose or as an evening dose, there was a reduction in intraocular pressure of 33% (p
Analyze clinical, temporal and procedural characteristics from 7,528 consecutive percutaneous coronary intervention (PCI) patients in one of the largest published contemporary European PCI-database during a 6-year period.
Retrospective study design.
1998-2004. Temporal and referral changes in a Danish PCI-registry were analyzed. Demographic and angiographic variables were compared with data from randomized clinical trials, US-registries and current guidelines.
22,214 patients were examined with coronary angiography and 7,528 patients were treated with PCI. The annual number of PCI's increased by 15%. Over time, the fraction of patients with risk factors increased, median age increased from 61 to 64 years and the coronary pathology was significantly worsened. ST-elevation myocardial infarction patients primarily admitted to hospitals without facilities for primary angioplasty, were less likely to receive primary PCI. Baseline-data were in general in par with randomized clinical trial study populations and large-scale US data-registries. Interestingly, 14% of all PCI-procedures were performed on patients with a clinical presentation, for which coronary artery bypass grafting would be recommended by guidelines.
PCI is performed in an increasingly sicker population, but generally in accordance with randomized trials and similar to US tradition. However, 14% were treated with PCI even though coronary artery bypass grafting was recommended by guidelines.
Knowing which factors influence restoration longevity can help clinicians make sound treatment decisions. The authors analyzed data from The National Dental Practice-Based Research Network to identify predictors of early failures of amalgam and resin-based composite (RBC) restorations.
In this prospective cohort study, the authors gathered information from clinicians and offices participating in the network. Clinicians completed a baseline data collection form at the time of restoration placement and annually thereafter. Data collected included patient factors, practice factors and dentist factors, and the authors analyzed them by using mixed-model logistic regression.
A total of 226 practitioners followed up 6,218 direct restorations in 3,855 patients; 386 restorations failed (6.2 percent) during the mean (standard deviation) follow-up of 23.7 (8.8) months. The number of tooth surfaces restored at baseline helped predict subsequent restoration failure; restorations with four or more restored surfaces were more than four times more likely to fail. Restorative material was not associated significantly with longevity; neither was tooth type. Older patient age was associated highly with failure (P
Cites: J Am Dent Assoc. 2005 Jun;136(6):790-616022046
The 26th Congress of the Scandinavian Society of Anaesthesiology and Intensive Care Medicine took place in the state-of-the art Tromso University Hospital. There were over 500 participants, and approximately 300 oral and poster presentations highlighted the latest progress in diverse areas. Much interest focused on activated protein C (APC) and other ways forward in sepsis treatment, pain management, novel markers of neurotrauma and antioxidants in bypass surgery. The meeting continues to be the leading anaesthesiology and intensive care conference in the region.
CCR5 is a chemokine receptor expressed on T-cells and macrophages. A 32-base pair deletion in the chemokine receptor 5 gene (CCR5-Delta32) leads to a non-functional receptor. Conflicting evidence exists whether this deletion is associated with primary sclerosing cholangitis (PSC). We genotyped the CCR5-Delta32 variant in 363 PSC patients and 366 controls. No significant increase in the Delta32 allele frequency was detected in the PSC patients compared to controls (12.7% vs 10.7% OR = 1.22, 95% CI [0.88, 1.68], P = 0.23). Survival analysis did not reveal any significant effects from CCR5-Delta32 genotypes on disease progression. Thus, in this study (power > 90%, given OR = 2, alpha = 0.05), we were unable to replicate previous findings and our results do not support an involvement of CCR5-Delta32 in either PSC susceptibility or progression.
Nordic countries' data offer a unique possibility to evaluate the long-term benefit of cervical cancer screening in a context of increasing risk of human papillomavirus infection.
Ad hoc-refined age-period-cohort models were applied to the last 50-year incidence data from Denmark, Finland, Norway and Sweden to project expected cervical cancer cases in a no-screening scenario.
In the absence of screening, projected incidence rates for 2006-2010 in Nordic countries would have been between 3 and 5 times higher than observed rates. Over 60,000 cases or between 41 and 49% of the expected cases of cervical cancer may have been prevented by the introduction of screening in the late 1960s and early 1970s.
Our study suggests that screening programmes might have prevented a HPV-driven epidemic of cervical cancer in Nordic countries. According to extrapolations from cohort effects, cervical cancer incidence rates in the Nordic countries would have been otherwise comparable to the highest incidence rates currently detected in low-income countries.