Israel Medical Association Journal

Background: While myoclonus and ataxia are considered common in patients with familial Creutzfeld-Jakob disease (fCJD), other movement disorders are less prevalent.

Objectives: To systemically evaluate the frequency of extrapyramidal signs and movement disorders in patients with fCJD.

Methods: A detailed neurological examination, with special emphasis on movement disorders and extrpyramidal signs, was conducted in 43 consecutive symptomatic CJD patients (26 males and 17 females mean age 58.7 ± 8.9 yrs, range 43–77 years) carrying the E200K mutation in the PRNP gene.

Results: Limb or gait ataxia was noted in 38 patients (88%) (37 patients, 86%, had ataxia at presentation). Myoclonus was evident in 25/43 patients (58%) (21 patients, 49%, at presentation). In 95% of the patients (41/43) (37/43, 86% at presentation) at least one extrapyramidal sign throughout the disease course was noted, the most prevalent being rigidity (28/43, 65% of the patients and 22/43, 51% at presentation), followed by the glabellar sign (24/43, 56% of the patients and 22/43, 51% at presentation), bradykinesia (19/43, 44% and 15/43, 35% at presentation), dystonia (15/43, 35% 12/43, 28% at presentation) and tremor (13/43, 30% 12/43, 28% at presentation).

Conclusions: In this unique population of fCJD patients, myoclonus was less prevalent than previously reported while other extrpyramidal signs were common and occurred at a relatively early stage of the disease. The high prevalence of movement disorders can be added to other phenomena characteristic of this familial disorder among Libyan Jews. Whether this is attributable to the E200K mutation itself or to some other mechanism has still to be elucidated.

Dopaminergic neurons in the basal ganglia normally fire in a continuous manner, maintaining the striatal dopamine concentration at a relatively constant level. In Parkinson’s disease, dopaminergic treatment produces a discontinuous stimulation, inducing an intermittent pulsatile activation of the striatal receptors. Probably the oscillations in the dopamine level in the striatum contribute to the development of motor complications. Treatment with long-acting dopaminergic agents, or providing a more continuous dopaminergic effect in the striatum, has been associated with fewer clinical motor complications. This review describes the state of the art in the clinical approach to achieve the desired continuous dopaminergic stimulation, providing patients with the best clinical effect and probably minimal motor complications.

Hip arthroscopy is one of the most rapidly evolving arthroscopy techniques. It combines the benefits of a minimally invasive procedure and a short rehabilitation period. Improved instrumentation and technical skills have advanced our ability to accurately diagnose and treat various conditions. The role of this procedure continues to evolve with new indications that might change the outcome of degenerative joint disease of the hip joint. Hip arthroscopy is indicated for both traumatic and atraumatic intra and extra-articular conditions. Femoroacetabular impingement (FAI) is increasingly recognized as a disorder that can lead to progressive articular chondral and labral injury. A variety of arthroscopic techniques allows the treatment of labral and acetabular rim pathology as well as peripheral compartment femoral head-neck abnormalities. It is now recognized that labral tears that were traditionally treated with simple debridement are often associated with underlying FAI. Hip arthroscopy is also being used for surgery to the structures surrounding the hip as snapping hip syndromes, greater trochanteric pain syndrome, and arthroscopic repair of abductor tendon tears. Better understanding of the arthroscopic anatomy, improved operative techniques, lowered complication rate and objective outcome measuring tools will further define the optimal role of hip arthroscopy and improve its outcome.

Background: Antibodies directed against endothelial cell surface antigens have been described in many disorders and have been associated with disease activity. Since the most prominent histopathologic feature in mixed connective tissue disease (MCTD) is the widespread and unique proliferative vascular lesion, our aim was to evaluate the frequency of anti-endothelial cell antibodies (AECA) in this condition.

Objectives: To evaluate the frequency of AECA in this disease and assess its clinical and laboratory associations.

Methods: Seventy-three sera from 35 patients with MCTD (Kasukawa’s criteria), collected during a 7 year period, were tested for immunoglobulins G and M (IgG and IgM) AECA by cellular ELISA, using HUVEC (human umbilical vein endothelial cells). Sera from 37 patients with systemic lupus erythematosus (SLE), 22 with systemic sclerosis (SSc) and 36 sera from normal healthy individuals were used as controls. A cellular ELISA using HeLa cells was also performed as a laboratory control method.

Results: IgG-AECA was detected in 77% of MCTD patients, 54% of SLE patients, 36% of SSc patients and 6% of normal controls. In MCTD, IgG-AECA was associated with vasculitic manifestations, disease activity and lymphopenia, and was also a predictor of constant disease activity. Immunosuppressive drugs were shown to reduce IgG-AECA titers. Since antibodies directed to HeLa cell surface were negative, AECA was apparently unrelated to common epitopes present on epithelial cell lines.

Conclusions: AECA are present in a large proportion of patients with MCTD and these antibodies decrease after immunosuppressive treatment.