RESUMEN
BACKGROUND: The VPS33B (OMIM: 608552) gene is located on chromosome 15q26.1. We found a female infant with autosomal recessive arthrogryposis, renal dysfunction and cholestasis syndrome 1 (ARCS1) caused by mutation in VPS33B. The child was diagnosed with ARCS1 (OMIM: 208085) after the whole exome sequencing revealed two heterozygous mutations (c.96+1G>C, c.242delT) in the VPS33B gene. CASE SUMMARY: We report a Chinese female infant with neonatal cholestasis disorder, who was eventually diagnosed with ARCS1 by genetic analysis. Genetic testing revealed two new mutations (c.96+1G>C and c.242delT) in VPS33B, which is the causal gene. The patient was compound heterozygous, and her parents were both heterozygous. CONCLUSION: This study extends the mutational spectrum of the VPS33B gene to provide a molecular basis for the etiological diagnosis of ARCS1 and for genetic counseling of the family.
RESUMEN
Objective: To compare the safety and efficacy of ultrasound-guided thermal ablation and conventional thyroidectomy for benign thyroid nodules (TNs) by performing a systematic review and meta-analysis.Methods: We searched PubMed, Embase, Web of Science and Cochrane Library databases for clinical trials from the date of their inception to 1 April 2019. Two investigators independently examined the trials to select qualified studies, extracted relevant information and assessed the risk of bias according to the Cochrane Collaboration checklist (Oxford, UK). The primary study outcomes were safety (hoarseness, hypothyroidism and postoperative pain) and efficacy (symptom improvement, postoperative cosmetic effects and hospitalization time). This study is registered with PROSPERO (CRD42019125643).Results: Seven studies involving 1289 patients were included. The results demonstrated that the incidences of hoarseness [odds ratio (OR) 0.33, 95% confidence interval (95% CI) (0.14, 0.79)], hypothyroidism [risk difference (RD) -0.31, 95% CI (-0.34, -0.28)] and postoperative pain [OR 0.35, 95% CI (0.25, 0.49)] were lower, and the hospitalization time was shorter [standard mean difference (SMD) -4.01, 95% CI (-4.22, -3.81)], in the thermal ablation group than in the conventional thyroidectomy group, and postoperative cosmetic effects were better [relative risk (RR) ratio 1.12, 95% CI (1.01, 1.24)] (p < 0.05). For symptom improvement, the difference was not statistically significant.Conclusions: This study shows that for benign TNs, ultrasound-guided thermal ablation may have potential advantages in terms of safety, cosmetic effects and shorter hospitalization time compared with conventional thyroidectomy, while symptom improvement is the same.
