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91.
Objective : To resolve if TBX22 mutations cause isolated tongue-tie in the Finnish population. Design : Mutation analysis of the coding region of the TBX22 gene in 50 Finnish isolated tongue-tie patients and 61 control samples. Results : One putative sequence variation was identified from two male patients, but whether this represents a polymorphism or causative mutation remains unknown. Conclusions : Mutations in the coding region of the TBX22 gene are not a major cause of ankyloglossia in the Finnish population and do not explain the sex difference or inheritance of tongue-tie. 相似文献
92.
Missing a canine is of serious concern in social life of a patient in most of societies. While conventional fixed partial dentures and implant-supported restorations may often be the treatment of choice, fiber-reinforced composite (FRC) resins offer a conservative, fast and cost-effective alternative for single and multiple teeth replacement. This clinical report presents two cases where FRC technology was successfully used to restore canine edentulous area in terms of esthetic-cosmetic values and functionality. 相似文献
93.
Diamond-Blackfan anemia (DBA) is a congenital erythroid hypoplasia caused by a functional haploinsufficiency of genes encoding for ribosomal proteins. Recently, a case study reported a patient who became transfusion-independent in response to treatment with the amino acid L-leucine. Therefore, we have validated the therapeutic effect of L-leucine using our recently generated mouse model for RPS19-deficient DBA. Administration of L-leucine significantly improved the anemia in Rps19-deficient mice (19% improvement in hemoglobin concentration; 18% increase in the number of erythrocytes), increased the bone marrow cellularity, and alleviated stress hematopoiesis. Furthermore, the therapeutic response to L-leucine appeared specific for Rps19-deficient hematopoiesis and was associated with down-regulation of p53 activity. Our study supports the rationale for clinical trials of L-leucine as a therapeutic agent for DBA. 相似文献
94.
Ukkola A Mäki M Kurppa K Collin P Huhtala H Kekkonen L Kaukinen K 《European Journal of Internal Medicine》2012,23(4):384-388
ObjectiveThe clinical presentation of coeliac disease has changed and patients are often overweight at diagnosis. There is concern that patients might gain further weight while on a gluten-free diet (GFD). The aim of the study was to evaluate the impact of a GFD on the body mass index (BMI) in a nationwide cohort of coeliac patients and to determine variables predictive of favourable or unfavourable BMI changes.MethodsWe prospectively investigated weight and disease-related issues in 698 newly detected adults diagnosed due to classical or extraintestinal symptoms or by screening. BMI at diagnosis and after one year on a GFD were assessed and compared with that in the general population.ResultsAt diagnosis, 4% of subjects were underweight, 57% normal, 28% overweight and 11% obese. On a GFD, 69% of underweight patients gained and 18% of overweight and 42% of obese lost weight; in the rest BMI remained stable. Changes were similar in both symptom- and screen-detected patients. The coeliac group had a more favourable BMI pattern than the general population. Favourable BMI changes were associated with subjects' self-rated expertise on GFD and young age at diagnosis, but not dietary counselling received.ConclusionsBMI improved similarly in screen- and symptom-detected coeliac disease patients on a GFD. 相似文献
95.
96.
Matti Pokela Ville Jäntti Pasi Lepola Pekka Romsi Jussi Rimpiläinen Kai Kiviluoma 《Scandinavian cardiovascular journal : SCJ》2013,47(3):154-157
Objective--To evaluate whether electroencephalography (EEG) recovery could be considered a reliable marker of brain injury after experimental hypothermic circulatory arrest (HCA). Design--Cortical electrical activity was registered before and after a 75-min period of HCA in 27 pigs that survived 7 days after the experiment. The sum of EEG bursts was counted as a percentage of the sum of artifact-free bursts and suppressions, and this percentage was used as a measure of EEG activity in the analysis. Results--Brain infarction developed in 13 animals (48.1%), in 12 cases (44.4%) having involved the cortex, in 1 case the thalamus (3.7%) and in another the hippocampus (3.7%). The mean EEG burst percentage significantly correlated with the total brain histopathological score (ρ?=??0.588, P?=?0.001). EEG burst percentage from the 2?h 20?min to the 7?h 20?min interval correlated with the total brain histopathological score and with the cortex, brainstem and cerebellum scores. The mean EEG burst percentage rate was higher, but not significantly, among the animals without brain infarction (38.5% vs 32.4%), but such a difference was significant at the 3?h 20?min postoperative interval (P?=?0.02). The mean EEG burst percentage significantly correlated with brain glucose concentration at the 1?h interval (ρ?=?0.387; P?=?0.046), brain lactate concentration at the 2?h interval (ρ?=??0.431; P?=?0.025), and the brain lactate/glucose ratio at the 1?h 30?min interval from the start of rewarming (ρ?=??0.433; P?=?0.024). Conclusion--A decreased EEG burst percentage seems to be associated with an increased risk of developing histologically evident brain ischemic injury in the cortex, brainstem and cerebellum after experimental HCA. 相似文献
97.
Timo A. Hyytinen Pekka E. Keto Lasse J. Heikkilä Kalervo A. Verkkala Jorma T. Sipponen Severi P. Mattila Pauli E. Hekali 《Scandinavian cardiovascular journal : SCJ》2013,47(4):421-425
In this report we present our experience of non-invasive magnetic resonance imaging (MR) angiography and selective catheter angiography in assessing the patency of bronchial artery revascularization grafts after an en bloc double-lung and heart-lung transplantation. We studied 8 patients who had undergone pulmonary transplantation with direct bronchial artery revascularization. Catheter angiography was performed 10 days to 63 months postoperatively. MR angiography was performed within 24 h of the catheter procedure and the results were compared with the findings from catheter angiography. Catheter angiography showed the bronchial revascularization graft to be patent in 6 patients and occluded in 2. At MR angiography, the patency of bronchial artery revascularization grafts was reliably identified in 7 of the 8 patients. One patient had inadequate image quality because of void artefacts caused by haemostatic clips. It is concluded that MR angiography is a reliable method for assessing the patency of bronchial artery revascularization grafts. 相似文献
98.
Timo A. Hyytinen Lasse J. Heikkilä Kalervo A. Verkkala Jorma T. Sipponen Tiina L. S. Vainikka Maija Halme Pauli E. Hekali Pekka E. Keto Severi P. Mattila 《Scandinavian cardiovascular journal : SCJ》2013,47(2):213-218
The study aimed to clarify the role of direct bronchial artery revascularization (BAR) after en bloc double-lung (DLT) and heart-lung transplantation (HLT). Group I comprised eight patients with en bloc DLT or HLT and successful BAR, while group II included 14 DLT or HLT cases without BAR or with failed BAR. From these groups, 2 subgroups were extracted: group III, including 6 cases of en bloc DLT with successful BAR and group IV 10 HLT cases without or with failed BAR. Airway healing was evaluated at bronchoscopy and patency of BAR with angiography. Pulmonary viral, bacterial and fungal infections, rejections and bronchiolitis obliterans syndrome (BOS) were registered. Tracheal healing at 2 weeks and 3 months was better in group I than in group II (p = 0.003 and p = 0.05, respectively). Compared with group IV, tracheal anastomotic healing at 2 weeks was better in group III (p = 0.007) and tended to be better also after 3 months (p = 0.07). The incidence of infections, rejection or BOS did not differ between groups I and II. BAR thus improved healing of tracheal anastomosis. 相似文献
99.
Pekka Löppönen Sami Tetri Seppo Juvela Juha Huhtakangas Pertti Saloheimo Michaela K. Bode John Koivukangas Matti Hillbom 《Clinical neurology and neurosurgery》2013
Background and Purpose
The role of surgery after primary intracerebral hemorrhage (ICH) is controversial. To explore whether hematoma evacuation after ICH had improved short-term survival or functional outcome we conducted a retrospective observational population-based study.Methods
We identified all subjects with primary ICH between 1993 and 2008 among the population of Northern Ostrobothnia, Finland. Hematoma evacuation was carried out by using standard craniotomy or through a burr hole. We compared mortality rates and functional outcomes of patients with hematoma evacuation with those treated conservatively.Results
Of 982 patients with verified ICH during the study period, 127 (13%) underwent hematoma evacuation. Surgically treated patients were significantly younger (mean ± SD, 63 ± 11 vs. 70 ± 12 years; p < 0.001), had larger hematomas (66 ± 36 vs. 28 ± 40 ml; p < 0.001), lower Glasgow Coma Scale scores (median, 11 vs. 14; p < 0.001) and more frequently subcortical hematomas (68% vs. 24%; p < 0.001) than those treated conservatively. In multivariable analysis, hematoma evacuation independently lowered 3-month mortality (adjusted hazard ratio [HR], 0.62; 95% confidence interval [CI], 0.43–0.88; p < 0.03), particularly among patients aged ≤70 years with ≥30 ml supratentorial hematomas (adjusted HR, 0.26; 95% CI, 0.14–0.49; p < 0.001). However, poor outcome was not improved by surgery (adjusted odds ratio 0.71; 95% CI 0.29–1.70).Conclusions
Improved 3-month survival was observed in patients who had undergone hematoma evacuation relative to patients not undergoing evacuation particularly in the subgroup of patients aged ≤70 years with ≥30 ml supratentorial hematomas. Surgery might improve outcome if cases could be selected more precisely and if performed before deterioration. 相似文献100.