Clinical Manifestation of Hearing Loss in a Boy with Type IIIb Gaucher Disease: A Unique Case Report.

Objective: Gaucher disease (GD) is a clinically rare single-gene recessive lysosomal storage disease mainly divided into three subtypes I to III. This report aims to present a case of type IIIb GD in a Chinese child with a focus on the manifestation of hearing loss and the importance of early diagnosis and monitoring. Methods: The patient underwent a routine physical examination upon admission, followed by CT scans of the chest and abdomen, MRI of the brain, and bone marrow smear examination. The patient's GBA enzyme activity, Lyso-GL-1 levels, and GBA gene expression were analyzed using tandem mass spectrometry (MS/MS) and next-generation sequencing technology. Finally, auditory brainstem response (ABR) testing was conducted. Results: This report presented a case of a Chinese boy with hematological manifestations as the first symptom, followed by hepatosplenomegaly, and the bilateral femurs showed obvious Erlenmeyer flask-like changes. Combined with GBA enzyme activity, Lyso-GL-1 and GBA genotype analysis results, the boy was initially diagnosed as type I GD. During the follow-up, the boy developed nystagmus, bilateral ABR V wave threshold increased, V/I amplitude ratio <0.5, accompanied by delayed growth and development, and finally diagnosed as type IIIb. Conclusions: This case suggests the necessity of neuropathy monitoring in patients with type I GD during the early stages of the disease. This includes EEG, neuro-ophthalmological examination, and auditory function assessment, which can help reflect the progression of neuropathy and facilitate the early diagnosis of type III GD.

Meta-analysis of the efficacy and safety of Huanglian Wendan Decoction alone or combined with western medicine in treating insomnia caused by phlegm-heat internal disturbance / 数字中医药（英文）

@#Objective To evaluate the efficacy and safety of Huanglian Wendan Decoction (黄连温胆汤, HLWDD) alone or combined with western medicine in treating insomnia caused by phlegm-heat internal disturbance in recent 10 years. Methods The randomized controlled trials of HLWDD alone or combined with western medicine in treating insomnia caused by phlegm-heat internal disturbance from January 1, 2012 to April 1, 2022 were searched in China National Knowledge Infrastructure (CNKI), China Science and Technology Journal Database (VIP), Wanfang Database, China BioMedical Literature Database (CBM), PubMed, Web of Science, Embase, and Cochrane Library databases. After being screening, the included literature was analyzed to evaluate the effective rate, Pittsburgh Sleep Quality Index (PSQI) score, traditional Chinese medicine (TCM) syndrome score, and adverse reactions of HLWDD on insomnia caused by phlegm-heat internal disturbance. The subgroup analyzed the effect of HLWDD after different treatment courses, and compared the therapeutic effects of HLWDD alone and HLWDD combined with western medicine. Results Twenty-seven randomized controlled trials were finally included, with a total of 2 395 patients. The results of the meta-analysis showed that the curative effect of HLWDD alone or combined with the western medicine group was better than that of the western medicine group [RR = 1.14, 95% CI (1.06, 1.22), P = 0.000]. The PSQI score [SMD = – 0.31, 95% CI (– 0.42, – 0.20), P = 0.000], TCM syndrome score [SMD = – 0.40, 95% CI (– 0.67, – 0.12), P = 0.005], and adverse reaction rate [RR = 0.21, 95% CI (0.15, 0.29), P = 0.000] of HLWDD alone or combined with western medicine group were significantly reduced compared with the western medicine group. The subgroup’s analysis showed that the curative effect of HLWDD alone or combined with western medicine group of 4 weeks treatment course was better than that of the western medicine group [RR = 1.14, 95% CI (1.03, 1.26), P < 0.05]. The TCM syndrome score of HLWDD alone or combined with the western medicine group of 4 weeks treatment course decreased more obviously than that of the western medicine group [SMD = – 0.60, 95% CI (– 0.96, – 0.25), P < 0.05]. There were no significant differences between HLWDD alone or combined with western medicine group and western medicine group with different treatment courses based on PSQI score and adverse reaction rate. Based on the effective rate, the comparison between the HLWDD alone group and the western medicine group [RR = 1.09, 95% CI (1.00, – 1.20) P < 0.05], and between the HLWDD combined with western medicine group and the western medicine group [RR = 1.15, 95% CI (1.03, 1.29), P < 0.05] was the same. PSQI score [SMD = – 0.44, 95% CI (– 0.59, – 0.30), P < 0.05] and TCM syndrome score [SMD = – 1.10, 95% CI (– 1.59, – 0.61), P < 0.05] of HLWDD combined with western medicine group were significantly lower than those of the western medicine group. There were no significant differences of adverse reaction rate between HLWDD alone group [RR = 0.08, 95% CI (0.04, 0.17), P < 0.05] and HLWDD combined with western medicine group [RR = 0.36, 95% CI (0.24, 0.53), P < 0.05]. Conclusion HLWDD alone or combined with western medicine is an effective treatment for insomnia caused by phlegm-heat internal disturbance, which has a high effective rate, significantly reduced PSQI score and TCM syndrome score, and favorable safety. The best course of treatment is 4 weeks.

Multidisciplinary effort in treating children with hepatoblastoma in China.

The purpose of this study is to report the first nationwide protocol (Wuhan Protocol) developed by Chinese Children's Cancer Group and the results of multidisciplinary effort in treating hepatoblastoma. In this study, we reported the final analysis, which includes 153 hepatoblastoma patients in 13 hospitals from January 2006 to December 2013. The 6-year overall survival and event-free survival rates were 83.3 ± 3.1% and 71.0 ± 3.7%, respectively, in this cohort. The univariate analysis revealed that female (P = 0.027), under 5 years of age (P = 0.039), complete surgical resection (P = 0.000), no metastases (P = 0.000), and delayed surgery following neoadjuvant chemotherapy (P = 0.000) had better prognosis. In multivariate analysis, male, 5 years of age or above, stage PRETEXT III or IV, and incomplete surgical resection were among the some adverse factors contributing to poor prognosis. The preliminary results from this study showed that patients who underwent treatment following Wuhan Protocol had similar OS and EFS rates compared to those in developed countries. However, the protocol remains to be further optimized in standardizing surgical resection (including liver transplantation), refining risk stratification and risk-based chemotherapy.

Effects of rhubarb powder on serum complement 3, complement 4, and hs-CRP in patients with intracerebral hemorrhage / 中国中西医结合杂志

<p><b>OBJECTIVE</b>To investigate the effects of rhubarb powder on serum complement 3 (C3), complement 4 (C4), and hypersensitive C-reactive protein (hs-CRP) levels in patients with hypertensive intracerebral hemorrhage (HICH) after operation.</p><p><b>METHODS</b>Forty inpatients with HICH after operation were recruited from Department of Cerebral Surgery, Affiliated Hospital of Shaanxi College of Traditional Chinese Medicine from July 2009 to March 2010. They were randomly assigned to the treatment group (20 cases) and the control group (20 cases). From the 4th day after surgery, all patients received routine Western medical treatment. The rhubarb powder, 5-10 g dissolving in 40 mL warm water, was administered or nasally fed to those in the treatment group, 2 -3 times daily for 10 successive days. The contents of serum C3, C4, and hs-CRP were detected in the two groups on the 7th day and the 14th day after operation. The serum hs-CRP content was detected using latex particle enhanced immunoturbidimetric assay. The Scandinavia Stroke Scale (SSS) scores were recorded in the two groups.</p><p><b>RESULTS</b>Compared with the same group on the 4th day after operation, the levels of serum C3 and C4 increased on the 7th day after operation, and SSS score increased on the 14th day after operation in the control group (P < 0.05). The contents of C4 and hs-CRP decreased, and the SSS score increased on the 14th day after operation in the treatment group (P < 0.05). Compared with the same group on the 7th day after operation, the contents of C4 and hs-CRP decreased and the SSS score increased on the 14th day after operation in the treatment group (P < 0.05). Compared with the control group at the same time points, the contents of C4 and C3 decreased on the 7th day after operation; the contents of C3, C4, and hs-CRP decreased, and SSS score increased in the treatment group on the 14th day after operation (P < 0.05).</p><p><b>CONCLUSION</b>The rhubarb powder could significantly decrease the serum levels of C3, C4, and hs-CRP, and improve the curative effect in patients with HICH after operation.</p>