ObjectiveTo investigate the clinical significance of Q-angle measuring under different conditions in female recurrent patellar dislocation female patients. MethodsBetween August 2012 and March 2013, 10 female patients (11 knees) with recurrent patellar dislocation were collected as trial group; 20 female patients (20 knees) with simple meniscus injury were collected as control group at the same time. Q-angle was measured in extension, 30° flexion, 30° flexion with manual correction, and surgical correction in the trial group, and only in extension and 30° flexion in the control group. Then the difference value of Q-angle between extension and 30° flexion (Q-angle in extension subtracts Q-angle in 30 flexion) were calculated. Independent sample t-test was used to analyze Q-angle degrees in extension, 30° flexion, and the changed degrees of 2 groups. The Q-angle between manual correction and surgical correction of the trial group was analyzed by paired t-test. ResultsThe Q-angle in extension, Q-angle in 30° flexion, and difference value of Q-angle between extension and 30° flexion were (17.2±3.6), (14.3±3.0), and (2.9±1.9)° in the trial group and were (15.2±3.4), (14.4±3.5), and (0.8±1.7)° in the control group. No significant difference was found in Q-angle of extension or Q-angle of 30° flexion between 2 groups (P>0.05), but the difference value of Q-angle between extension and 30° flexion in the trial group was significantly larger than that in the control group (t=3.253, P=0.003). The Q-angle in 30° flexion with manual correction and surgical correction in the trial group was (19.8±3.4)° and (18.9±3.8)° respectively, showing no significant difference (t=2.193, P=0.053). ConclusionWhen a female patient's Q-angle in 30° flexion knee changes obviously compared with Q-angle in extension position, recurrent patellar dislocation should be considered. For female patients with recurrent patellar dislocation, the preoperative Q-angle in 30° flexion with manual correction should be measured, which can help increasing the accuracy of evaluation whether rearrangement should be performed.
Objective To analyze the clinical phenotypic characteristics and plasma biomarker levels in female patients with Fabry disease (FD), and to explore their correlation with disease severity. Methods Clinical data were cross-sectionally collected between March and December 2024 from female FD patients who had previously been diagnosed across China. GLA gene mutations, α-galactosidase A (α-Gal A) activity, and plasma globotriaosylsphingosine (Lyso-GL-3) levels were measured. Disease severity was assessed using the Mainz Severity Score Index (MSSI). Spearman partial correlation analysis (controlling for age) was performed to evaluate correlations. Results A total of 21 female patients with FD from six pedigrees were enrolled. The disease severity of female FD patients varied considerably, with MSSI scores ranging from 2 to 31 [median (lower quartile, upper quartile): 11 (7, 24)]. Even within the same pedigree, organ involvement such as hearing loss and proteinuria was observed to occur earlier in some younger female patients than in their older female patients. Regarding biomarkers,13 patients (61.9%) had normal α-Gal A activity. All the 21 female patients had elevated Lyso-GL-3 levels (median: 15.24 nmol/L). After controlling for age, Lyso-GL-3 was positively correlated with MSSI score (rs=0.679, P=0.001) and left ventricular mass index (rs=0.486, P=0.030), and negatively correlated with α-Gal A activity (rs=?0.530, P=0.016). Estimated glomerular filtration rate showed no statistically significant correlation with any of the above parameters (P>0.05). Conclusions The disease severity of female patients with FD varies substantially. Significant phenotypic heterogeneity can also be observed among female heterozygotes with FD within the same pedigree. Plasma Lyso-GL-3 level is cross-sectionally correlated with disease severity and cardiac involvement, but its prognostic value requires validation in prospective studies.