Analysis of a Chinese pedigree affected with Spinal muscular atrophy due to compound heterozygous variants of SMN gene / 中华医学遗传学杂志

OBJECTIVE@#To analyze variants of SMN gene in a Chinese pedigree affected with Spinal muscular atrophy (SMA).@*METHODS@#A Chinese pedigree diagnosed at the Nanchang First Hospital in January 2020 was selected as the study subject. Peripheral blood samples were collected for the extraction of DNA. All exons of the SMN gene were detected by multiple ligation-dependent probe amplification (MLPA). Potential variants of the SMN gene were also detected by Whole exome sequencing (WES), and the result was verified by Sanger sequencing. cDNA extracted from fresh blood sample was used as a template to verify the location of variant on the SMN genes.@*RESULTS@#The proband was found to harbor a heterozygous deletion of the SMN1 Exon7+Exon8, and a heterozygous c.81G>A variant. The SMN1 Exon7+Exon8 deletion was inherited from her father and grandmother, whilst the c.81G>A variant was inherited from her mother and maternal grandfather. Her aunt was also a carrier of the heterozygous deletion, while her paternal aunt, her husband, and their daughter were not. cDNA amplification and Sanger sequencing confirmed that the c.81G>A variant was located in the SMN1 gene.@*CONCLUSION@#MLPA combined with NGS and Sanger sequencing can identify compound heterozygous variants of the SMN gene in the SMA patients.

Efficacy and safety of ritonavir-boosted danoprevir combined with daclatasvir in treatment of patients with genotype 1b chronic hepatitis C / 中华临床感染病杂志

Objective To evaluate the clinical efficacy and safety of ritonavir-boosted danoprevir (DNVr) combined with daclatasvir (DCV) in the treatment of patients with genotype 1b chronic hepatitis C (CHC).Methods Thirty-three patients with genotype 1b CHC admitted in the Department of Infectious Diseases of the First Affiliated Hospital of Nanchang University from August 2018 to February 2019 were enrolled.All the patients received DNVr +DCV antiviral treatment.HCV RNA levels were detected before and 2, 4, 12 weeks after treatment, and after drug withdrawal , respectively.Indicators of liver and kidney function and adverse events were observed.ANOVAV of repeated measurement was used to analyze the data. Results The baseline viral loads of 33 patients ranged from 1.12×104 to 1.76×107 IU／mL.Two weeks after treatment the viral loads of all patients were down to the lowest limit of detection (＜500 IU／mL). Serum ALT, AST and TBil levels returned to norml ( F＝58.26, 14.49 and 20.16, all P＜0.05) and sustained virologic response reached 100%12 weeks after drug withdrawal.Three cases had minor adverse reactions during the treatment.Conclusion DNVr combined with DCV can achieve a rapid and strong virological response in the treatment of patients with genotype 1b CHC with good safety.

Effect of Acupuncture at Neiguan (PC 6) with Different Inserting Methods on Short-form McGill Pain Questionnaire and Cardiovascular Function / 上海针灸杂志

Objective To observe the changes of cardiovascular function after acupuncture at Neiguan (PC 6) respectively with slowly twirling needling and tube needling in healthy subjects, and to objectively evaluate the pain intensity of the two needling methods.Method A hundred healthy young subjects were randomized into group A and group B, 50 cases in each group. Neiguan (PC 6) point was selected for acupuncture in both groups. In the first stage, group A received acupuncture by slowly twirling needling, while group B received acupuncture with tube needling; in the second stage (a week later), group A received acupuncture with tube needling, while group B by slowly twirling needling. The Short-form McGill Pain Questionnaire (SF-MPQ) was observed after acupuncture for each subject, and ZXG-E automatic cardiovascular function detector was adopted to evaluate the cardiovascular function before puncturing, 5 min after puncturing, and 30 min after puncturing.Result The Sensory Pain Rating Index (S-PRI) and total SF-MPQ scores of slowly twirling needling were significantly different from that of tube needling (P<0.01). The Affective Pain Rating Index (A-PRI), Visual Analogue Scale (VAS), and Present Pain Intensity (PPI) of slowly twirling needling method were significantly different from that of tube needling (P<0.01). At 5 min after needle insertion, the FEK and VER values of twirling needling were significantly different from that of tube needling (P<0.01).Conclusion The pain produced by slowly twirling needling is more variant and stronger than that by tube needling, and this pain variation can produce a positive effect on cardiovascular function.

Effects of slow twisting needle insertion and tubing needle insertion at Neiguan (PC 6) on cardiovascular function: a comparative study / 中国针灸

<p><b>OBJECTIVE</b>To compare the effects between slow twisting needle insertion and tubing needle insertion.</p><p><b>METHODS</b>With cross-over design, 100 healthy young subjects (half male and half female) aged from 19 to 23 years were randomly divided into two groups by random digital table, 50 cases in each one. At the first stage, subjects in the group A were treated with slow twisting needle insertion while, subjects in,the group B were treated with tubing needle insertion. One week later, the procedure of second stage was performed alternately. The needle was inserted into Neiguan (PC 6) with two methods by one acupuncturist. The needle was retained for 5 min before removal. Five min before needle insertion as well as needle withdrawal and 30 min after needle withdrawal, ZXG-E automatic cardiovascular diagnostic apparatus was used to test cardiovascular function.</p><p><b>RESULTS</b>At the tim of needle withdrawal, slow twisting needle insertion could improve effect work of kinetics (EWK), effective blood volume (BV) and reduce elastic expansion coefficient of blood vessel (FEK) and left ventricular spray blood impedance (VER), which was significantly different from tubing needle insertion (all P < 0.05). Thirty min after needle withdrawal, the differences of the indices of cardiovascular function between the two groups were not significant (all P > 0.05).</p><p><b>CONCLUSION</b>The slow twisting needle insertion is significantly superior to tubing needle insertion on lowering vascular tension and VER, improving EWK and BV.</p>