Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria

3-Hydroxy-3-methylglutaric aciduria is a rare human autosomal recessive disorder caused by deficiency of 3-hydroxy-3-methylglutaryl CoA lyase (HL). This mitochondrial enzyme catalyzes the common final step of leucine degradation and ketogenesis. Acute symptoms include vomiting, seizures and lethargy, accompanied by metabolic acidosis and hypoketotic hypoglycaemia. Such organs as the liver, brain, pancreas, and heart can also be involved. However, the pathophysiology of this disease is only partially understood. We measured mRNA levels, protein expression and enzyme activity of human HMG-CoA lyase from liver, kidney, pancreas, testis, heart, skeletal muscle, and brain. Surprisingly, the pancreas is, after the liver, the tissue with most HL activity. However, in heart and adult brain, HL activity was not detected in the mitochondrial fraction. These findings contribute to our understanding of the enzyme function and the consequences of its deficiency and suggest the need for assessment of pancreatic damage in these patients

Bipolar press-fit radial head arthroplasties: surgical technique and expected outcomes

Several types of radial head prostheses have been designed and introduced in clinical practice over the last decades. Currently, radial head prostheses can be categorized according to the material (silicone, polyethylene, pyrocarbon, and metal), modularity (monoblock or modular), polarity (monopolar or bipolar), and method of stem fixation (cemented, loose-fit, expandable stem, and press-fit). The topic of this chapter is the bipolar press-fit radial head arthroplasties (RHA). Two types of this implant are described in the literature: (1) the press-fit RHS (Tornier, Montbonnot-Saint-Martin, France) and (2) the bipolar SBI (radial head implant, Small Bone Innovation, Morrisville, Pennsylvania, USA). The aims of this chapter are (1) to describe the surgical technique and (2) to report the clinical results yielded by these two types of implant. A bipolar press-fit radial head, i.e., Antea (Adler Ortho, Milano, Italy), has recently been marketed, though no studies have yet been published on this new device

A randomized controlled trial of nonoperative treatment versus open reduction and internal fixation for stable, displaced, partial articular fractures of the radial head: the RAMBO trial

Background: The choice between operative or nonoperative treatment is questioned for partial articular fractures of the radial head that have at least 2 millimeters of articular step-off on at least one radiograph (defined as displaced), but less than 2 millimeter of gap between the fragments (defined as stable) and that are not associated with an elbow dislocation, interosseous ligament injury, or other fractures. These kinds of fractures are often classified as Mason type-2 fractures. Retrospective comparative studies suggest that operative treatment might be better than nonoperative treatment, but the long-term results of nonoperative treatment are very good. Most experts agree that problems like reduced range of motion, painful crepitation, nonunion or bony ankylosis are infrequent with both nonoperative and operative treatment of an isolated displaced partial articular fracture of the radial head, but determining which patients will have problems is difficult. A prospective, randomized comparison would help minimize bias and determine the balance between operative and nonoperative risks and benefits. Methods/Design: The RAMBO trial (Radial Head - Amsterdam - Amphia - Boston - Others) is an international prospective, randomized, multicenter trial. The primary objective of this study is to compare patient related outcome defined by the 'Disabilities of Arm, Shoulder and Hand (DASH) score' twelve months after injury between operative and nonoperative treated patients. Adult patients with partial articular fractures of the radial head that comprise at least 1/3rd of the articular surface, have >= 2 millimeters of articular step-off but less than 2 millimeter of gap between the fragments will be enrolled. Secondary outcome measures will be the Mayo Elbow Performance Index (MEPI), the Oxford Elbow Score (OES), pain intensity through the 'Numeric Rating Scale', range of motion (flexion arc and rotational arc), radiographic appearance of the fracture (heterotopic ossification, radiocapitellar and ulnohumeral arthrosis, fracture healing, and signs of implant loosening or breakage) and adverse events (infection, nerve injury, secondary interventions) after one year. Discussion: The successful completion of this trial will provide evidence on the best treatment for stable, displaced, partial articular fractures of the radial head

Performance control after arthroscopic arthrolysis with capsulectomy in fresh-frozen elbow joints

Background and objective Posttraumatic or postoperative movement restrictions in elbow joints can often occur (including capsular contracture) and can generate everyday limitations. In persistent elbow stiffness, arthroscopic arthrolysis with removal of the dorsal and ventral capsule portions can be carried out. The purpose of this study was to assess the efficacy of arthroscopic capsulectomy by means of an in vitro anatomical study. Methods A standardized elbow arthroscopy with ventral and dorsal capsulectomy was performed and image-documented in five fresh-frozen elbow specimens. Subsequently, open dissection of the elbow joint was performed to analyze the amount of residual capsule by means of photodocumentation of the specimens. Results Regardless of the surgeon and surgical experience, anterior and posterior remnants of the capsule remained in all specimens. Dorsal capsule strands around the standard arthroscopy portals were noticed particularly more often in the area of the high dorsolateral camera portal. An incomplete capsulectomy was seen on the ulnar side at the level of the posterior medial ligament (PML) in the immediate vicinity of the ulnar nerve. Ventrally, a capsulectomy was performed from the radial side and also the ulnar side until the brachialis muscle and additionally a complete capsulectomy as far as the anterior medial ligament (AML) and radial collateral ligament (RCL) was achieved. The capsule was completely resected in a proximal direction. Distally, irrelevant capsular remnants were found in the region of the annular ligament and distal of the tip of the coronoid process. Conclusion Arthroscopic arthrolysis can be performed with a high degree of radicality. The radicality must be self-critically taken into account in one's own action. The radicality of the portal change may even be higher ventrally than with an isolated column procedure. On the other hand, it must be critically considered that posteriorly, the PML cannot be adequately addressed by means of arthroscopy due to the risk of ulnar nerve injury. Portal changes might help to enable a more complete visualization of the joint capsule and may avoid leaving possibly relevant remnants of the capsule. If a release of the PML is required, this may have to be carried out in combination with an ulnar nerve release in a mini-open technique