RESUMO
Objective To observe the clinical characteristics of 2 patients with mucolipidosis type Ⅲ. Methods Two sibling patients (a sister and a brother) with mucolipidosis type Ⅲ symptoms and other family members were the research objects, and the changes of their features of hand bone imaging, blood indexes [blood glucose, cholesterol, triacylglycerol (TG), total protein (TP), albumin (Alb)] and body composition were analyzed. Results Except the 2 patients, the bone morphology, blood indexes and body compositions in other 7 family members were under normal conditions. The phalanx intervals of both hands in 2 patients with mucolipidosis type Ⅲwere widened significantly, among them the thumb manifestation was more obvious; the distal segments of phalanxes in both hands became pointed and curved presenting a "claw-like hand" deformity; the metacarpal and distal carpal metaphysis were obviously enlarged, and scaphoid, lunate, trianglar, orbicular, and trapezium and trapezoid bones were loosely arranged at the wrist; the distal ends of ulna and radius were markedly enlarged. Compared to healthy people, the triglyceride levels of serum in the 2 patients were obviously reduced (the percentage of reduction: 57.14% and 41.07% respectively); body mass indexes (BMI), total fat and visceral fat were significantly lowered (BMI reduction percentage:26.81% and 14.55%, total fat reduction percentage: 38.12% and 44.95%, visceral fat reduction percentage: 62.25% and 67.74%, respectively) in the two patients. Conclusion The purpose of studying the biochemistry indexes, imaging characteristics and body compositions is to more deeply understand the clinical symptoms and signs of the 2 sibling patients with mucolipidosis type Ⅲ in a family to provide a theoretical reference.
RESUMO
This study proposed an assessment of the correlation of hand bone mineral density measured by dual energy x-ray absorbtiometry (DXA) with the carpo:metacarpal (C:MC) ratio and metacarpal cortical index (CI) in patients with rheumatoid arthritis (RA). The correlation of total hand BMD, CI and C:MC ratio with BMD at other sites, the Health Assessment Questionnaire (HAQ) and Larsen scores were also examined. The hand and axial BMD of 30 female patients were also compared with 29 age-matched healthy female controls. Total hand BMD values of patients were significantly lower than the control group. There was no significant difference between groups in axial measurements. CI correlated moderately with the second metacap (II.MC) midshaft and total hand BMD. The C:MC ratio correlated with II.MC midshaft and total hand BMD. Total hand BMD correlated moderately with the AP spine (L2-L4) and femoral neck BMD. Larsen scores showed weak negative correlation with II.MC midshaft BMD and CI. Grip strength correlated weakly only with total hand BMD. The results indicated that CI may reflect cortical bone mass of the hand accurately and did not predict bone density of the spine or hip in patients with RA. The C:MC ratio is a useful method for evaluating progression of wrist involvement and may be related to the loss of hand bone mineral density associated with disease process.