The intervertebral disc regeneration therapy using MSC brought about favorable results in these 2 cases. It seems to be a promising minimally invasive treatment.

Pseudohomozygous familial hypercholesterolemia is a rare condition of unknown etiology. Sitosterolemia is a rare autosomal recessively inherited disorder that is characterized by premature coronary artery disease, cutaneous xanthomas, and increased plasma plant sterols and 5alpha-stanols. Only a few cases of both sitosterolemia and pseudohomozygous familial hypercholesterolemia have been reported. In this study, we report two sisters with both conditions. With a low-cholesterol diet (< 250 mg/day), serum cholesterol concentration decreased rapidly to an almost normal level and cutaneous xanthomas gradually regressed and finally disappeared; however, plant sterol levels did not change during the period. Plant sterols should be measured in patients considered to have pseudohomozygous familial hypercholesterolemia. The two conditions in this family may have been the results of a single gene mutation. The findings also indicate that low cholesterol diet therapy is effective for the treatment of hypercholesterolemia but not of sitosterolemia in this family.

Cervical laminoplasty combined with muscle release for the treatment of cervical myelopathy due to athetoid cerebral palsy is effective in simplifying postoperative therapy and improving JOA scores.

SummaryGlycosaminoglycans in calcified cervical ligamenta ftava from a male patient with Coffin-Lowry syndrome were analyzed biochemically. Hexuronate content based on the tissue dry weight was 8-fold and 5-fold concentrated in the calcified center as compared with the peripheral area and with age-matched, normal ligamenta flava, respectively. Twodimensional electrophoresis of glycosaminoglycan preparations on cellulose acetate film revealed that, although dermatan sulfate was the major glycosamin0glycan in the normal ligamenta fiava, chondroitin sulfate was the predominant glycosaminoglycan in the pathological tissue. Relative amounts of chondroitin sulfate disaccharide units were determined after digestion of glycosaminoglycans with chondroitinase, and the ratio of chondroitin 6-sulfate to chondroitin 4-sulfate tended to decrease with the distance from the calcified center to the peripheral area. These observations suggest that an alteration in glycosaminoglycan metabolism may be a contributing factor in calcification of ligamenta flava in Coffin-Lowry syndrome.

BackgroundDespite recent advancements in rheumatoid arthritis (RA) pharmacotherapy, surgeons still encounter severely damaged knees. The purpose of the present study was to analyze the mid-term clinical results of total knee arthroplasty (TKA) with metal block augmentation and stem extension.MethodsA total of 26 knees in 21 patients who underwent primary TKA with metal block augmentation and stem extension were retrospectively reviewed. All patients with a mean age of 63 years had RA for a mean duration of 15 years. Functional and radiographic results as well as complications were evaluated at the mean follow-up period of 6 years after TKA. Eight knees were lost follow-up after the two-year evaluation.ResultsTibial bone defects with average depth of 19 mm were preoperatively recognized in all 26 knees. The postoperative joint line was reconstructed on average 11 mm above the fibular head using average thickness of 11 mm tibial inserts and 9 mm metal blocks with stem extension. Significant improvements (p < 0.05 for all comparisons) were observed postoperatively in maximum extension angle from −10° to −1°, range of motion from 101 ° to 115 °, and Knee Society Score (knee score/function score) from 35/18 to 90/64. Non-progressive radiolucent lines beneath the metal block and osteosclerotic changes around the medullary stem were found in 16 knees (62 %) and 14 knees (54 %), respectively. There was two failures (8 %): fragile supracondylar femur fractures and knee instability. No knees showed any radiographic implant loosening, dislocation, polyethylene insert breakage, peroneal palsy, or infection.ConclusionsPrimary TKA with metal block augmentation and stem extension could effectively restore function in RA patients with advanced forms of knee joint destruction, and be reliable and durable for a mean postoperative period of 6 years. Further study is needed to determine the long-term results of TKA using metal block augmentation and stem extension.