Myotonia congenita (Thomsen's disease) report of five cases in a family

This report describes 5 out of 8 siblings who were the first cases of myotonia congenita diagnosed in our department. The parents were first cousins. Neither the parents, nor the other family members have myotonia. The affected siblings 4 boys and 1 girl, all showed a very typical myotonia especially after prolonged rest, and it could be worked off with continuing activity. They had a muscular looking body or a herculean proportion. The diagnosis were based upon family history, clinical findings of percussion myotonia, had grip myotania, prominent muscular hypertrophy and confirmed by electromyographic examination revealing myotonic discharges. Since there were some functional impairments, these patients were treated with diphenylhydantoin and then with quinine sulphate, with good results. The patients related parents were much likely to be heterozygous for the same harmful recessive genes, because they had common ancestor. The role of marriage counseling is important in this kind of inherited disease, to prevent the occurrence of this inherited disorder in the next generations.     

A novel technique for laser-assisted revascularization: an in vitro pilot study

Lasers in Medical Science - The common limitation of surgical revascularization procedures for severe tissue ischemia due to cardiovascular diseases is the need to interrupt blood flow during the...     

Methylation of 2-hydroxyestradiol in isolated organs

Vascular smooth muscle and glomerular mesangial cells in culture express a biochemical pathway that methylates 2-hydroxyestradiol (17beta-estradiol metabolite) to produce 2-methoxyestradiol, a cell growth inhibitor that may mediate the cardiorenal protective effects of 17beta-estradiol. Whether this pathway exists in intact organ systems is currently unclear. Accordingly, the purpose of the present investigation was to characterize the methylation of 2-hydroxestradiol in intact organs from both male and female rats. No significant differences were detected in the ability of male and female tissues to methylate 2-hydroxyestradiol. In isolated hearts, kidneys, and mesenteries perfused with Tyrode's solution, Km values for 2-hydroxyestradiol methylation were 0.175+/-0.021, 0.387+/-0.054, and 0.495+/-0.089 micromol/L, respectively, and Vmax values were 21.0+/-1.58, 24.9+/-1.49, and 1.01+/-0.148 pmol 2-methoxyestradiol x min(-1) x ml(-1) per gram, respectively. The catalytic efficiency (Vmax/Km) was greatest in the heart compared with the kidney and mesentery (132+/-14.3, 78.4+/-15.1, and 2.30+/-0.263 pmol 2-methoxyestradiol x min(-1) x mL(-1) x micromol/L(-1) per gram, respectively). In the kidney, the catechol-O-methyltransferase inhibitor quercetin and norepinephrine (10 micromol/L) reduced methylation of 2-hydroxyestradiol by approximately 90% and 41%, respectively. Importantly, methylation in the kidney was inhibited by an average of 16.6+/-1.80% by endogenous norepinephrine released by renal artery nerve stimulation. Our results indicate that a robust 2-hydroxyestradiol methylation pathway exists in the kidney and heart, but not in the mesentery, and that this pathway is mediated by catechol-O-methyltransferase. Our findings also suggest that catecholamines may interfere with 2-hydroxyestradiol methylation and thereby attenuate the cardiorenal protective effects of 17beta-estradiol.     

Management of Ruptured Brain Arteriovenous Malformations

Intracranial arteriovenous malformations (AVMs) are a common cause of stroke in younger patients, and often present as intracerebral hemorrhages (ICH), associated with 10 % to 30 % mortality. Patients who present with a hemorrhage from an AVM should be initially stabilized according to acute management guidelines for ICH. The characteristics of a lesion including its size, location in eloquent tissue, and high-risk features will influence risk of rupture, prognosis, as well as help guide management decisions. Given that rupture is associated with an increased risk of 6 % re-rupture in the year following the initial hemorrhage, versus 1 % to 3 % predicted annual risk in non-ruptured lesions only, definitive treatment is encouraged after ICH stabilization. A rest period of 2 to 6 weeks after hemorrhage is recommended before definitive treatment to avoid disrupting friable parenchyma and the hematoma. Treatment may consist of endovascular embolization, surgical resection, radiosurgery, or a combination of these three interventions based on the lesion.     

Sleep apnea syndrome: improved detection of respiratory events and cortical arousals using oxymetry pulse wave amplitude during polysomnography

Respiratory events (RE) during sleep induce cortical arousals (A) and marked changes in autonomic markers in sleep apnea syndrome (SAS). The aims of the study were double. First, we assessed whether pulse wave amplitude (PWA) added to polysomnography (PSG) could improve RE and A detection; second, we wanted to know whether the quality of detection of these two parameters could be improved using PWA. Respiratory disturbance index (RDI) and A were randomly scored twice by the same observer in 12 male patients with SAS. The first scoring was done using conventional PSG signals, the second scoring adding PWA to PSG. We also measured interobserver agreement by randomly selecting and reading 100 PSG sequences of 5 min with and without PWA by two observers. Adding PWA to PSG parameters allowed to detect significantly more RDI (53.9 ± 21.6 h⁻¹ versus 48.3 ± 22.3 h⁻¹, p < 0.001) and more A (68.0 ± 14.4 versus 59.4 ± 16.5, p < 0.001). Moreover, after using PWA, there was no significant disagreement between two observers for detecting RE, showing better quality of RE detection. PWA is a simple and cheap parameter that improves the diagnostic value of conventional PSG in sleep apnea syndrome by better detecting respiratory events and A.     

Invasive techniques in diagnosis and staging of lung cancer

Aim-Background

During the staging process of lung cancer, accurate mediastinal lymph node staging is one of the more important factors to affect patient outcome. Accurate staging of the disease is important not only in determining prognosis but also in deciding the optimal treatment plan. The most significant treatment decision is establishing which patients can benefit from surgical resection and which should receive chemotherapy, radiation, or both. This paper reviews indications and current data regarding minimally invasive approaches for diagnosis and staging of lung cancer. In addition, current advances in diagnostic endoscopy for lung cancer will be reviewed.

Methods

A systematic literature search was performed to identify relevant reports. Studies and articles were identified using online searches of the U.S. National Library of Medicine via www.pubmed.com. We limited our bibliographic search to include only articles from 2008 onward.

Results

The thoracoscopic approach is currently considered the gold standard for the evaluation and treatment of suspected or known pleural effusion and in the diagnosis of indeterminate pulmonary nodules. It also has a complementary role to cervical mediastinoscopy in the invasive staging of mediastinal lymph nodes. Its role continues to evolve with regard to the management of lung cancer.

Conclusions

Mediastinoscopy has remained the ‘gold standard’ in invasive staging tests of the mediastinum. The classic way of invasively assessing the aortopulmonary window is the Chamberlain procedure, also known as an anterior mediastinotomy.     

Combining physical performance and Functional Movement Screen testing to identify elite junior Australian Football athletes at risk of injury

The Functional Movement Screen (FMS) and physical performance testing are often suggested to be related to sports injury risk. This study explored if the combination of FMS and physical performance testing improved identification of non-contact injury risk over FMS testing alone in an elite junior Australian football cohort. Over a 3-year period, 573 players completed pre-season injury history questionnaires, FMS, physical performance testing (20-m sprint, vertical jump, planned agility testing, and shuttle run test), and subsequent in-season injury surveillance. Results: Neither previous injury or FMS score <14 were related to an increased risk of subsequent injury in isolation. The combination of FMS composite score ≤14 and previous injury moderately increased the risk of injury (Hazard ratio [HR] = 2.22 [1.09-4.54]). None of the physical performance measures improved the ability to predict injuries based on FMS composite score. FMS asymmetry was only associated with injury when combined with previous injury and vertical jump performance. Players with ≥1 FMS asymmetry and history of previous injury experienced a large increase in injury risk when vertical jump was poor (HR = 4.26 [1.35-13.42]) or good (HR = 3.17 [1.08-9.29]). Players with a combination of a good vertical jump, no previous injury, and no FMS asymmetries were also at moderately increased risk of injury (HR = 3.41 [1.11-10.42]). No physical performance tests improved the ability to identify non-contact injury risk using an FMS composite score threshold. However, a U-shaped relationship between vertical jump and injury risk was identified with both poor and good vertical jump height associated with a moderate-large increase in non-contact injury risk in the presence of ≥1 asymmetrical FMS sub-test.