Analysis of a child with X-linked intellectual disability due to a maternal de novo splicing variant of the PAK3 gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic etiology for a child with profound intellectual disabilities and obvious behavioral abnormalities.@*METHODS@#A male child who had presented at the Zhongnan Hospital of Wuhan University on December 2, 2020 was selected as the study subject. Peripheral blood samples of the child and his parents were collected and subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing. Short tandem repeat (STR) analysis was carried out to determine its parental origin. The splicing variant was also validated in vitro with a minigene assay.@*RESULTS@#WES results revealed that the child had harbored a novel splicing variant of c.176-2A>G in the PAK3 gene, which was inherited from his mother. The results of minigene assay have confirmed aberrant splicing of exon 2. According to the guidelines from the American College of Medical Genetics and Genomics, it was classified as a pathogenic variant (PVS1+PM2_Supporting+PP3).@*CONCLUSION@#The novel splicing variant c.176-2A>G of the PAK3 gene probably underlay the disorder in this child. Above finding has expanded the variation spectrum of the PAK3 gene and provided a basis for genetic counseling and prenatal diagnosis for this family.

Clinical utility value of urinary aldosterone detection by tandem mass spectrometry in primary hyperaldosteronism screening / 中华检验医学杂志

Objective:To explore the clinical utility of liquid chromatography tandem mass spectrometry forprimary aldosteronism screening.Methods:From January to October 2019, 413 inpatients diagnosed hypertension from Fuwai Hospital of Chinese Academy of Medical Sciences were enrolled, including 60 Primary aldosteronism(PA)patients and 353 primary hypertension patients. The plasma aldosterone concentration (PAC) and renin concentration (DRC) were measured after 2 h of standing. The 24 h urine samples were collected for measurement of aldosterone using LC-MS/MS. The performance of urine aldosterone and urine aldosterone/renin ratio (UADRR) in PA screening was evaluated by ROC, and compared with PAC/DRC ratio (ADRR). Meanwhile, the efficiency of urine aldosterone in elderly patients or patients with low blood potassium or 24 h urine sodium over 200 mmol was investigated.Results:Area under the curve (AUC)of urine aldosterone was 0.725 (95 %CI 0.679-0.767), and the best cut-off was 7.13 μg/24 h, which was lower than AUC of ADRR (0.958, 95 %CI 0.934-0.975). The AUC of UADRR was 0.947 (95 %CI 0.920-0.966), the best cut-off was 1.11 (μg/24 h)/(μIU/ml), the sensitivity and specificity were 91.7% and 89.0%, respectively. There is no significant differences found with ADRR. In patients with 24 h urine sodium over 200 mmol, AUC of aldosterone was 0.834 (95 %CI 0.730-0.910) and the best cut-off was 9.31 μg/24 h. The sensitivity and specificity were 90.9% and 68.7%, respectively. For the elderly patients over 60 years old, the AUC of urinary aldosterone was 0.860 (95 %CI 0.770-0.925), and the best cut-off was 6.91 μg/24 h. The sensitivity and specificity were 84.6% and 81.3%, respectively. When admission blood potassium was less than 3.50 mmol/L, AUC of urinary aldosterone was 0.822 (95 %CI 0.684-0.917), and the best cut-off was 10.63 μg/24 h. The sensitivity and specificity were 85.7% and 66.7%, respectively. Conclusion:The detection of aldosterone in urine by LC-MS/MS can provide clinical information for PA screening, and the screening performance is better in patients with 24-hour urine sodium over 200 mmol, elderly patients or patients with low blood potassium. If combined with renin, screening efficiency was the same as that in ADRR.

Analysis of the Processing Situation of Marketed Scorpions and Optimization of Salt-water Processing / 中国药师

Objective: To analyze the processing situation of 124 batches of scorpions and optimize the salt-water processing.Methods: The character, extract, moisture, total ash, acid insoluble ash, amino acids content and heavy metals in the marketed scorpions were determined.Using extract and amino acids contents as the indices, the salt-water processing was optimized.Results: The results of the above determinations showed that the quality difference was very obvious for the marketed scorpion, and the extract and amino acids contents were the highest in scorpion boiled in 2% sodium chloride aqueous solution for 5 min.Conclusion: The item of extract test should be revised in the current standard, and the items such as moisture, total ash, acid insoluble ash, amino acids content and heavy metals should be taken into consideration in order to control the quality of scorpion more comprehensively.The best salt-water processing of scorpion is boiled in 2% sodium chloride aqueous solution for 5 min.