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31.
Sixteen unrelated Southern European patients with the mitochondrial depletion syndrome (MDS) were analyzed for mutations in the TK2 and DGUOK genes. Three novel mutations were identified in TK2 (R183G, R254X, and 142insG). When we analyzed additional genes involved in the dNTPs pool, such as SLC25A19 (DNC) and NT5M (d-NT2), we did not detect mutations. The current study suggest that scanning the TK2, DGUOK, SLC25A19, and NT5M genes is likely to help about 10% of MDS families in terms of genetic counseling. Also, our findings indicate that genotype-phenotype correlations are not straightforward in MDS.  相似文献   
32.
Blood loss measurement in transurethral prostatic surgery (TUR) has been studied with the following objectives: (1) to measure the total lost volume (during surgery and 48 hours postoperatively); (2) to compare surgical bleeding and coagulogram alterations in benign prostatic hypertrophy (BPH) and prostatic carcinoma (CaP); (3) to establish the relationship between blood loss, duration of the procedure, and amount of resected tissue. The method of Jansen was used to measure blood loss, and the "coagulogram" included the following parameters: hematrocrit; prothrombin, recalcification, thrombin, and partial thromboplastin times; fibrinogen; platelets and fibrin split products. The study is based on TUR performed on 75 patients from whom a mean weight of 25.68 grams was resected resulting in a mean total bleeding volume of 305 ml. Blood loss over 400 ml was associated with surgical durations of 60 minutes or with resection of over 40 grams of tissue. There was a slight tendency for fibrinolysis in prostatic cancer, which could explain the relatively higher amount of blood loss observed in these cases.  相似文献   
33.
Dry extracts from the Eurasian plants, Ajuga turkestanica, Eurycoma longifolia, and Urtica dioica have been used as anabolic supplements, despite the limited scientific data on these effects. To assess their actions on early sarcopenia signs, male and female castrated mice were supplemented with lyophilized extracts of the three plants, isolated or in association (named TLU), and submitted to resistance exercise. Ovariectomy (OVX) led to body weight increase and non-high-density cholesterol (HDL) cholesterol elevation, which had been restored by exercise plus U. dioica extract, or by exercise and TLU, respectively. Orchiectomy (ORX) caused skeletal muscle weight loss, accompanied by increased adiposity, being the latter parameter reduced by exercise plus E. longifolia or U. dioica extracts. General physical activity was improved by exercise plus herbal extracts in either OVX or ORX animals. Exercise combined with TLU improved resistance to fatigue in OVX animals, though A. turkestanica enhanced the grip strength in ORX mice. E. longifolia or TLU also reduced the ladder climbing time in ORX mice. Resistance exercise plus herbal extracts partly altered gastrocnemius fiber size frequencies in OVX or ORX mice. We provide novel data that tested ergogenic extracts, when combined with resistance exercise, improved early sarcopenia alterations in castrated male and female mice.  相似文献   
34.
Lasers in Medical Science - Knee osteoarthritis (KOA) is a common degenerative disease in which several treatments and treatment associations have been investigated. This review analyzed the...  相似文献   
35.
Background/PurposeThe aim of the study was to evaluate the postoperative quality of life (QoL) of patients who underwent minimally invasive repair of pectus excavatum (MIRPE) with a newly designed bar and bar stabilizers.MethodsWe conducted a prospective randomized study in which patients were operated either with standard perpendicular stabilizers (control group) or with the newly designed oblique stabilizers (intervention group). All patients were evaluated 6 months after the operation with the Pectus Excavatum Evaluation Questionnaire (PEEQ).ResultsThere were 16 patients in the control group and 14 in the intervention group. Mean age was 17 (SD: 3.3, range 14–27) years. There were no demographic differences between groups. Two patients in the control group and one in the intervention group were repaired with two bars instead of one. There was one reoperation in each group. There was a significant difference between the pre- and postoperative scores, in both groups, in the patient body image domain (control group: 9.5 to 3; p < 0.01; intervention group 10 to 3; p < 0.01), as well as in the psychosocial domain (control group: 13.5 to 24, p < 0.01; intervention group: 15 to 24, p < 0.01). With regards to the patients' perception of physical difficulties before and after MIRPE, the difference between pre- and postoperative scores was greater in the intervention group (8 to 12, p < 0.01) than in the control group (10 to 11, p = 0.04). The mean length of stay was 4.5 and 5 days in the intervention group and the control group, respectively.ConclusionOur study showed that patients who underwent MIRPE with the newly designed bars and stabilizers had non-inferior outcomes than patients reported in the literature who underwent MIRPE with standard bars and stabilizers. We found slightly better outcomes in patients in the intervention group compared to the control group, but larger studies will be needed to confirm if those differences are statistically significant.Level of evidenceII  相似文献   
36.
Erythromelalgia (EM) is a rare autosomal dominant neuropathy characterized by the combination of severe burning pain and erythematous warm extremities. Chronic pain control is most often unsuccessful and a completely effective therapy is yet to be identified. Recent studies have reported significant improvements in pain management using a combination of amitriptyline and ketamine in a topical formulation. We describe a 1-year follow-up pain control success case of a male patient with EM, proposed for topical use of a 2% Amitriptyline and 0.5% Ketamine gel.  相似文献   
37.
IntroductionLiver transplantation is the standard treatment for end-stage liver disease. Brazil holds the third highest number of liver transplants performed per year, but center maldistribution results in high discrepancies in accessing this treatment. In 2012, an interstate partnership successfully implemented a new liver transplantation program in the middle west of Brazil. Here, we report the results of the first 500 liver transplants performed in this new program and discuss the impacts of a new transplant center in regional transplantation dynamics.MethodsWe reviewed data from the first 500 consecutive deceased donor liver transplants performed in the new program during an 8-year period. We analyzed data on patients’ clinical and demographic profiles, postoperative outcomes, and graft and recipient survival rates. Univariate survival analysis was conducted using log-rank tests to compare the groups.ResultsAlmost half (48%) of the procured organs and 40% of the recipients transplanted in our center were from outside our state. Recipient 30-day mortality was 9%. Overall recipient survival at 1 year and 5 years was 85% and 80%, respectively. Mortality was significantly associated with higher Model for End-Stage Liver Disease (P < .001) but not with the presence of hepatocellular carcinoma (P = .795).DiscussionThe new transplantation program treated patients from different regions of Brazil and became the reference center in liver transplantation for the middle west region. Despite the recent implementation, our outcomes are comparable to experienced centers around the world. This model can inspire the creation of new transplantation programs aiming to democratize access to liver transplantation nationwide.  相似文献   
38.
BackgroundVascular injury after hallux valgus surgery is a rare condition but serious complications can ensue.MethodsWe performed an anatomical study using 26 cadaveric lower extremities. We enhanced first metatarsal bone’s (FMB) vascularization by injecting latex. Each specimen was classified according to the severity of hallux valgus deformity (HVD). Then we measured two distances: one between the first tarsometatarsal joint (FTMJ) to the first dorsal branch’s origin, the other between the first metatarsophalangeal joint (MTP) to the dorsal plexus’s origin.ResultsThe distance between the FTMJ and the first dorsal branch to the FMB ranges from 10 mm in normal feet to 15 mm in severe deformed feet. The distance between the MTP and the dorsal plexus’ origin ranges from 20 mm in normal feet to 25 mm in severe deformed feet.ConclusionsUnderstanding the foot’s vascular anatomy has allowed us to adapt surgical landmarks to the severity of the HVD and to avoid post-operative complications.  相似文献   
39.
40.
Six stroke patients were studied using a dichotic listening CV task, 4 with left hemisphere infarction, 2 with right hemisphere infarction. It was observed a "lesion-effect", a shift of hemisphere prevalence to the side opposite a brain lesion. The authors suggest that the lesion-effect can be explained by the auditory extinction phenomenon at the linguistic level.  相似文献   
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