Clinical, pathological, and genetic characterization in a large Chinese cohort with female dystrophinopathy.

We aimed to investigate the clinical, pathological, and genetic characteristics of Chinese female dystrophinopathy and to identify possible correlations among them. One hundred forty genetically and/or pathologically confirmed female DMD variant carriers were enrolled, including 104 asymptomatic carriers and 36 symptomatic carriers. Twenty of 36 symptomatic and 16 of 104 asymptomatic carriers were sporadic with no family history. Muscle pathological analysis was performed in 53 carriers and X chromosome inactivation (XCI) analysis in 19 carriers. In asymptomatic carriers, the median age was 35.0 (range 2.0-58.0) years, and the serum creatine kinase (CK) level was 131 (range 60-15,745) IU/L. The median age, age of onset, and CK level of symptomatic carriers were 15.5 (range 1.8-62.0) years, 6.3 (range 1.0-54.0) years, and 6,659 (range 337-58,340) IU/L, respectively. Four female carriers with X-autosome translocation presented with a Duchenne muscular dystrophy (DMD) phenotype. Skewed XCI was present in 70.0% of symptomatic carriers. Compared to Becker muscular dystrophy (BMD)-like carriers, DMD-like carriers were more likely to have an early onset age, rapidly progressive muscle weakness, delayed walking, elevated CK levels, severe reduction of dystrophin, and skewed XCI. Our study reports the largest series of symptomatic female DMD carriers and suggests that delayed walking, elevated CK levels, severe reduction of dystrophin, X-autosome translocation, and skewed XCI pattern are associated with a severe phenotype in female dystrophinopathy.

Spinal Gout Without Spinal Symptom in a Junior School Student: A Case Report.

STUDY DESIGN: Case report. OBJECTIVE: We report a case of a 16-year-old boy with intermittent and migratory polyarthralgia, who made a diagnostic dilemma. SUMMARY OF BACKGROUND DATA: Spinal involvement without spinal symptom in gout seems to be rare. However, the relationship of spinal gout to symptoms is poorly understood. METHODS: Description of the case report. RESULTS: Laboratory findings cannot explain his symptoms; however, a computed tomography of the pelvis revealed the presence of space-occupying lesion involving the left side of spine at L5-S1 level, and the later biopsy revealed that was a urate crystal, which help us make the diagnosis of spinal gout. CONCLUSION: Gout can be a cunning disease which has various manifestations, and spinal involvement can be asymptomatic. LEVEL OF EVIDENCE: 5.

Impact of aristolochic acid exposure on oncologic outcomes of upper tract urothelial carcinoma after radical nephroureterectomy.

OBJECTIVE: To investigate the effect of aristolochic acids (AA) exposure, including exposure duration and years since last exposure, on oncologic outcomes of patients with upper tract urothelial carcinoma (UTUC) after radical nephroureterectomy (RNU). METHODS: We retrospectively collected clinicopathologic and AA exposure variables for 942 UTUC patients treated with RNU between 1999 and 2014 in a high-volume center of China. AA exposure duration was categorized as (>3 vs ≤3 years) and time since last AA exposure to surgery as (>5 vs ≤5 years). RESULTS: A total of 856 patients (90.9%) had none or possible AA exposure and 86 patients (9.1%) had credible AA exposure history. Among the 86 patients, 57 (66.3%) had AA exposure for ≤3 years and 29 (33.7%) had exposure for >3 years. The median follow-up duration was 60 months. By multivariate analysis, AA exposure history was significantly associated with cancer specific survival (hazard ratio [HR]: 0.43, p=0.02), intravesical recurrence (IVR) (HR: 2.25, p<0.001) and contralateral UTUC recurrence (HR: 2.71, p=0.001). After adjusted for the effects of standard clinicopathologic characteristics, exposure duration was independent risk factor for subsequent IVR (exposure duration ≤3 years vs none/possible AA, HR: 1.87, p=0.009; exposure duration >3 years vs none/possible AA, HR: 3.07, p<0.001), but not for cancer-specific survival (p=0.06). Also, of those patients who had AA exposure, those having exposure within 5 years prior to RNU did not differ from patients having last exposure >5 years ago regarding cancer specific mortality (p=0.67) and IVR (p=0.54). CONCLUSION: AA exposure was associated with worse cancer-specific survival, higher rate of IVR and contralateral UTUC recurrence of UTUC treated with RNU. The association between AA exposure and IVR seems to be time-dependent. Exposure cessation >5 years prior to RNU cannot mitigate the impact of AA on the UTUC prognosis.