The Influence of a Genetic Variant in on -Associated Skeletal Muscle Disease.

Mutations in the gene-encoding A-type lamins can cause Limb-Girdle muscular dystrophy Type 1B (LGMD1B). This disease presents with weakness and wasting of the proximal skeletal muscles and has a variable age of onset and disease severity. This variability has been attributed to genetic background differences among individuals; however, such variants have not been well characterized.

Posterior fusion for fragility type 2 odontoid fractures.

Objective: The purpose of this study was to evaluate the outcomes of elderly patients with type 2 odontoid fractures treated with an instrumented posterior fusion.

Methods: Ninety-three consecutive patients older than 65 years of age in whom a type 2 odontoid fracture had been treated with a variety of C1-2 posterior screw fixation techniques were retrospectively reviewed.

Results: The average age was 78 years (range 65-95 years).

Imaging characteristics of chronic spinal cord injury identified during screening for a cell transplantation clinical trial.

OBJECTIVEIn cell transplantation trials for spinal cord injury (SCI), quantifiable imaging criteria that serve as inclusion criteria are important in trial design. The authors' institutional experience has demonstrated an overall high rate of screen failures. The authors examined the causes for trial exclusion in a phase I, open-lab clinical trial examining the role of autologous Schwann cell intramedullary transplantation.

Pathology of cavernous malformations.

Cavernous malformations (CMs) are low-pressure angiographically occult lesions, composed of blood-filled sinusoidal locules known as "caverns." Although these lesions were once believed to be congenital in nature, there is compelling evidence to support de novo formation of CMs as well. They can occur as sporadic lesions or be inherited in an autosomal-dominant phenotype in familial forms of the disease.

Extracranial ligation of ethmoidal arteries before resection of giant olfactory groove or planum sphenoidale meningiomas: 3 illustrative cases with a review of the literature on surgical techniques.

Object: There are several surgical techniques for reducing blood loss-open surgical and endoscopic-prior to resection of giant anterior skull base meningiomas, especially when preoperative embolization is risky or not technically feasible. The authors present examples of an institutional experience using surgical ligation of the anterior and posterior ethmoidal arteries producing persistent tumor blush in partially embolized tumors.

Methods: The authors identified 12 patients who underwent extracranial surgical ligation of ethmoidal arteries through either a transcaruncular or a Lynch approach.

Unusual presentation of congenital dermal sinus: tethered spinal cord with intradural epidermoid and dual paramedian cutaneous ostia.

The authors present the first report of spinal congenital dermal sinus with paramedian dual ostia leading to 2 intradural epidermoid cysts. This 7-year-old girl had a history of recurrent left paramedian lumbosacral subcutaneous abscesses, with no chemical or pyogenic meningitis. Admission MRI studies demonstrated bilateral lumbar dermal sinus tracts and a tethered spinal cord.

Intraoperative femoral nerve stimulation in evaluation of patellar tracking: tourniquet effects and catheter placement.

Background: Dynamic intraoperative assessment of patella tracking utilizes femoral nerve stimulation to contract the quadriceps muscles in assessing the proper distance to transfer the tibial tubercle during distal realignment procedures for patellofemoral instability.

Purpose: We describe the effects of tourniquet inflation and catheter placement on intraoperative femoral nerve stimulation for assessment of patellar tracking.

Methods: Percutaneous electromyographic (EMG) needles were placed into the quadriceps and sartorius muscles to monitor muscle activity and changes in amplitude threshold (mA) required for femoral nerve stimulation with increasing tourniquet inflation times.