Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a 'Treatabolome'.

BACKGROUND: Metabolic myopathies are a heterogenous group of muscle diseases typically characterized by exercise intolerance, myalgia and progressive muscle weakness. Effective treatments for some of these diseases are available, but while our understanding of the pathogenesis of metabolic myopathies related to glycogen storage, lipid metabolism and ß-oxidation is well established, evidence linking treatments with the precise causative genetic defect is lacking. OBJECTIVE: The objective of this study was to collate all published evidence on pharmacological therapies for the aforementioned metabolic myopathies and link this to the genetic mutation in a format amenable to databasing for further computational use in line with the principles of the "treatabolome" project. METHODS: A systematic literature review was conducted to retrieve all levels of evidence examining the therapeutic efficacy of pharmacological treatments on metabolic myopathies related to glycogen storage and lipid metabolism. A key inclusion criterion was the availability of the genetic variant of the treated patients in order to link treatment outcome with the genetic defect. RESULTS: Of the 1,085 articles initially identified, 268 full-text articles were assessed for eligibility, of which 87 were carried over into the final data extraction. The most studied metabolic myopathies were Pompe disease (45 articles), multiple acyl-CoA dehydrogenase deficiency related to mutations in the ETFDH gene (15 articles) and systemic primary carnitine deficiency (8 articles). The most studied therapeutic management strategies for these diseases were enzyme replacement therapy, riboflavin, and carnitine supplementation, respectively. CONCLUSIONS: This systematic review provides evidence for treatments of metabolic myopathies linked with the genetic defect in a computationally accessible format suitable for databasing in the treatabolome system, which will enable clinicians to acquire evidence on appropriate therapeutic options for their patient at the time of diagnosis.

Rutile RuxTi1-xO2 nanobelts to enhance visible light photocatalytic activity.

We herein report on the synthesis by a facile sol-gel method without templates for preparing rutile RuxTi1-xO2 (x = 0.16; 0.07; 0.01) nanobelts with exposed (001) facets. The rutile nanobelts with exposure (001) facets, favor the separation photogenerated electron-hole pairs and inhibit the recombination of the electron-hole pairs resulting in the increase of the number of main superoxide and hydroxyl radicals. The photocatalytic properties of the rutile RuxTi1-xO2 nanobelts were evaluated by discoloring of MB (methylene blue) dye under sunlight irradiation at an intensity of 40000 lx. It was also done a thorough interface analysis to determine the band energy.

A systematic review of meta-analyses in orthopaedic surgery between 2000 and 2016.

AIMS: The aims of this systematic review were to describe the quantity and methodological quality of meta-analyses in orthopaedic surgery published during the last 17 years. MATERIALS AND METHODS: MEDLINE, EMBASE, and PubMed, between 1 January 2000 and 31 December 2016, were searched for meta-analyses in orthopaedic surgery dealing with at least one surgical intervention. Meta-analyses were included if the interventions involved a human muscle, ligament, bone or joint. RESULTS: A total of 392 meta-analyses met eligibility criteria, for which the mean AMSTAR quality score was 7.1/11. There was a positive correlation between the year of publication and the quality of the meta-analysis (r = 0.238, p < 0.001). Between 2000 and 2011, the mean AMSTAR score corresponded to that of a medium quality review. However, between 2012 and 2016, the mean scores have been consistently equivalent to those of a high-quality review. The number of meta-analyses published increased 10-fold between 2005 and 2014. CONCLUSION: The quantity and quality of meta-analyses in orthopaedic surgery which have been published has increased, reaching a plateau in 2012. Methodological flaws remain to be addressed in future meta-analyses in order to continue increasing the quality of the orthopaedic literature. Cite this article: Bone Joint J 2018;100-B:1270-4.

The incidence of infrapatellar plicae in the elderly Welsh population.

There are several studies reporting the incidence of suprapatellar, medial, and lateral plicae, but there is very limited information regarding the incidence of the infrapatellar plica. The purpose of our study was to record the incidence of infrapatellar plicae in the elderly Welsh population suffering from knee osteoarthritis. A prospective study was performed and 90 knees with severe osteoarthritis of the knee joint (Kellgren-Lawrence type III and IV) were investigated during total knee arthroplasty surgery. Documentation was performed at every total knee replacement surgery for the length of the study. Knee replacement was performed by one senior surgeon. Infrapatellar plica was investigated by a medial parapatellar approach and was classified into five types according to Kim's classification. The overall incidence of infrapatellar plicae was 37.7%. The most common type of plicae was the separate type (23.3%). There was no significant difference found between male and female patients. The fenestra type was the least common (2.22%). The incidence of infrapatellar plicae in the elderly Welsh population suffering from knee osteoarthritis was significantly lower when compared to a study that recorded the incidence of infrapatellar plica in young patients. Possibly, the degenerative changes of the knee joint can cause the resorption of the infrapatellar plica, thus decreasing its incidence in the elderly population.

Hip pain and pseudo-lengthening of the leg due to iliopsoas haematoma following implantation of an uncemented component in acetabular cotyloplasty technique.

We report early symptomatic (groin pain and apparent limb lengthening) findings in our 12 consecutive patients who underwent total hip replacements using a cementless acetabular cotyloplasty technique. This report is the first in the literature to mention such an early complication in a large number of patients and also to describe early detection and treatment in these cases. During the period of January 2007 to December 2010, 12 patients (seven female, five male) with dysplastic hip underwent total hip arthroplasty. The mean age of the patients was 57 years (range 52-61 years) and the mean follow-up time was 18 months (12-36 months). A cotyloplasty technique was performed and uncemented acetabular and femoral components were implanted in all these 12 patients. All patients were reviewed postoperatively for clinical and radiographic assessment at six weeks, three months, six months, and one year, and then annually thereafter. During the first one to two months (mean time 22 ± 16 days), all patients complained of a constant pain in the groin that started in the early postoperative period. A pseudo lengthening of the operated hip and pelvic tilt was found on clinical examination at the three-month follow-up. The True length did not reveal a significant leg length discrepancy. Hip pain, pseudo lengthening, and pelvic tilt resolved within 123 ± 17 days post-op. A cotyloplasty technique using an uncemented acetabular implant can cause an intrapelvic hematoma of the iliopsoas muscle giving rise to temporary groin pain, pseudo lengthening on the operated side, and gait disturbances to the patient in the early postoperative period. Symptoms resolved completely in all of our cases. Iliopsoas physiotherapy could be useful and should be encouraged during the symptomatic period. Patients have to be informed during consenting and reassured about this symptomatology. Awareness of this likely complication would help surgeons to detect the problem and initiate treatment early.

Arteriovenous malformation: An unusual cause of rectus sheath hematoma, following laparoscopic cholecystectomy.

Rectus sheath hematoma (RSH) is an accumulation of blood in the rectus abdominis muscle sheath, secondary to several conditions which may cause the epigastric vessel rupture or muscular tear, but mostly affecting patients undergoing anticoagulation therapy.We present a rare case of a 67-year-old woman who underwent laparoscopic cholecystectomy and developed RSH on the 12th postoperative day. The patient was under anticoagulation therapy with acenocoumarole due to mitral valve replacement. The bleeding source was an arteriovenous malformation (AVM) rupture as indicated by the angiogram images and it was embolized succefully. The patient was discharged seven days later.

Wilkie syndrome. What is this?

Superior mesenteric artery syndrome is extremely rare and is characterized by postprandial epigastric pain, nausea, vomiting and loss of appetite, with subsequent weight loss, which aggravates the condition of the patients. The syndrome is caused by compression of the third part of the duodenum in the angle between the aorta and the superior mesenteric artery. This review updates etiology, epidemiology, diagnosis, treatment and outcome of the superior mesenteric artery syndrome. Superior mesenteric artery syndrome is clearly defined and frequently associated with a wide range of predisposing conditions and surgical procedures.