Mutation analysis in 16 patients with mtDNA depletion

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.     

Shwartzman reaction in streptozotocin-induced diabetic rats

The possibility that experimental diabetes could prepare for the generalized Shwartzman reaction was investigated in female Sprague-Dawley streptozotocin-induced diabetic rats. After 48 hours, 1 week, and 9 weeks of diabetes, the rats were injected with 2 mg/kg of endotoxin, and the animals were sacrificed 2, 4, 8, and 24 hours after endotoxin. Ninety percent of the diabetic animals given endotoxin developed massive glomerular capillary fibrin deposition accompanied by marked decrease in platelet count. The age- and sex-matched nondiabetic control rats had no such changes. This marked susceptibility to endotoxin, previously only reported in pregnant rats, was present as early as 1 week of diabetes. The degree of glycemic control greatly influenced the susceptibility of diabetic rats to the generalized Shwartzman reaction. Only 28% of the diabetic animals given insulin once daily (4.6 +/- 0.3 units, mean +/- SEM) and maintaining a blood glucose level of 269 +/- 19 mg/dl developed glomerular thrombi. In contrast, the diabetic animals that did not receive insulin and had a blood glucose level of 617 +/- 21 mg/dl all developed fibrin thrombi. We conclude that the diabetic state in rats induces a unique susceptibility to the generalized Shwartzman reaction following a single injection of endotoxin, which varies with the severity of the diabetic state. Although the pathogenesis is unclear, this phenomenon may reflect abnormalities in the glomerular capillary wall and/or the coagulation system that may be important in the development of microvascular complications. Furthermore, this phenomenon may, in the animal model, mirror the increased risk of the diabetic patient to intravascular coagulation with bacterial sepsis.     

Single fiber electromyography (SFEMG) in mitochondrial diseases (MD)

Conventional EMG, nerve conduction studies and SFEMG were performed in 18 patients with various phenotypes of MD. 14 cases showed findings consistent with mild myopathy, 2 patients signs of sensory-motor axonal neuropathy and 2 cases a mixture of myopathy and axonal neuropathy. Motor unit fiber density was mild increased in 8 out of 13 tested cases. Jitter was abnormal in 10 out of 18 tested patients. Jitter abnormalities were not related to myopathic or neurogenic features in the EMG study, and may be observed in muscles without clinical weakness. The results suggest the existence of neuromuscular transmission disturbances in patients with MD.     

Blood loss during and following transurethral resection

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.     

Combined Effects of Exercise and Phytoanabolic Extracts in Castrated Male and Female Mice

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.     

Association of photobiomodulation therapy (PBMT) and exercises programs in pain and functional capacity of patients with knee osteoarthritis (KOA): a systematic review of randomized trials

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...     

Quality of life outcomes after minimally invasive repair of pectus excavatum utilizing a new set of metallic bars and stabilizers

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     

Gel tópico de amitriptilina al 2% y ketamina al 0,5% para el tratamiento de la eritromelalgia: reporte de un caso con respuesta positiva al dolor

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.     

500 Consecutive Liver Transplants: The Outcomes of a New Transplantation Program in the Middle West of Brazil

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.